Materiały źródłowe

• #1 Trisomy X: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-x/

  Trisomy X, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female’s cells. […] Trisomy X is associated with an increased risk of learning disabilities and delayed development of speech and language skills. […] This condition occurs in about 1 in 1,000 female newborns; however, many of these affected individuals are never diagnosed. […] Most cases of trisomy X are not inherited. […] An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. […] 46,XX/47,XXX mosaicism is also not inherited. […] Genetic Testing Registry: Trisomy X syndrome. […] Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

• #2 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits. Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

• #3 Trisomy X – Wikipedia

  https://en.wikipedia.org/wiki/Trisomy_X

  Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it. […] As the symptoms of trisomy X are often not serious enough to prompt a karyotype test, many cases of trisomy X are diagnosed before birth via prenatal screening tests such as amniocentesis. […] Trisomy X, like other aneuploidy disorders, is caused by a process called nondisjunction. Nondisjunction occurs when homologous chromosomes or sister chromatids fail to separate properly during meiosis, the process that produces gametes (eggs or sperm), and result in gametes with too many or too few chromosomes.

• #4 Triple X syndrome – Knowledge and References – Taylor & Francis

  https://taylorandfrancis.com/knowledge/Medicine_and_healthcare/Pathology/Triple_X_syndrome/

  Triple X syndrome (47,XXX) is characterized by the presence of an extra X chromosome in women. Its prevalence is estimated to be 1/1000 females or even lower. Because triple X syndrome manifests itself differently in individuals, it is assumed that many women remain undiagnosed because their symptoms are too mild to warrant medical attention, while only 16% of women with triple X syndrome receive a diagnosis because they exhibit more severe symptoms or have been identified via prenatal screenings.

• #5 Mayo Clinic Health Library – Triple X syndrome | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20155325

  Because many girls and women with triple X syndrome are healthy and show no outward signs of the condition, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. […] Triple X syndrome may also be discovered during prenatal testing to identify other genetic disorders. […] If triple X syndrome is suspected after birth based on signs and symptoms, it can be confirmed by genetic testing. In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple X syndrome.

• #6 Triple X syndrome: Symptoms, chromosomes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/187322

  Triple X syndrome can be diagnosed before the baby is born, through chorionic villus sampling (CVS) or amniocentesis, and a blood test after she is born. […] Diagnosis can be made with the help of analyzing a sample of amniotic fluid (amniocentesis). […] CVS tissue is taken from the placenta for examination, usually between the 8th and 10th week of pregnancy if the mother opts for it. This test is done to diagnose severe abnormalities that may be affecting the fetus; it is not specifically to diagnose triple X syndrome, but this will also be picked up. […] Amniocentesis this may also be done during pregnancy. Some amniotic fluid is collected and analyzed. […] Blood tests may be used for chromosome analysis after birth if the doctor notices unusual physical features or delays in development. […] All three tests examine the persons collection of chromosomes, known as the karyotype. […] There is no routine screening for triple X syndrome. If an embryo or fetus is found to have the syndrome, it is usually after screening for something else.

• #7 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  In cases of prenatal diagnosis, parents and clinical genetic counsellors needed information about this syndrome. The review by Nielsen has been worthwhile; this information is freely available on the internet and has been translated into several languages by parent support groups. After postnatal diagnosis, this information is useful for parents and for clinical geneticists, paediatricians, gynaecologists, (child) neurologists, (child) psychiatrists and others. This article aims to provide another up-to-date review of the literature. […] To the best of our knowledge, prenatal cases of triple X syndrome have not been suspected on just clinical grounds. The association between trisomy X in the offspring and maternal age is not as strong as in trisomy 21. In the newborn-screening studies, the average maternal age was 33 and the paternal age was 29.

• #8 Triple X syndrome: Symptoms, chromosomes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/187322

  Triple X syndrome can be diagnosed before the baby is born, through chorionic villus sampling (CVS) or amniocentesis, and a blood test after she is born. […] Diagnosis can be made with the help of analyzing a sample of amniotic fluid (amniocentesis). […] CVS tissue is taken from the placenta for examination, usually between the 8th and 10th week of pregnancy if the mother opts for it. This test is done to diagnose severe abnormalities that may be affecting the fetus; it is not specifically to diagnose triple X syndrome, but this will also be picked up. […] Amniocentesis this may also be done during pregnancy. Some amniotic fluid is collected and analyzed. […] Blood tests may be used for chromosome analysis after birth if the doctor notices unusual physical features or delays in development. […] All three tests examine the persons collection of chromosomes, known as the karyotype. […] There is no routine screening for triple X syndrome. If an embryo or fetus is found to have the syndrome, it is usually after screening for something else.

• #9 Triple X Syndrome: Symptoms, Causes, Treatment, and More

  https://www.healthline.com/health/triple-x-syndrome

  Most women and girls with triple X syndrome dont exhibit any outward signs. They live healthy lives, which is why so many cases go undetected. A diagnosis can be made through genetic testing. This testing can be performed after birth by taking a blood sample. It can also be done before birth by more sophisticated tests like amniocentesis and chorionic villus sampling, which analyze the tissues and cells of a fetus.

• #10 Triple X Syndrome | Condition | Unity Screen

  https://www.unityscreen.com/conditions/triple-x-syndrome

  UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can provide expecting parents important information about their chance to have a baby with Trisomy X, and other genetic conditions. […] UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can detect the risk of a developing baby having certain chromosomal disorders, including Triple X syndrome, as early as 9 weeks into pregnancy from the pregnant patients blood sample. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Triple X syndrome. […] UNITY Aneuploidy Screen is highly accurate at identifying pregnancies with an extra X chromosome. However, it is important to note that a positive result does not definitively mean that the baby has Triple X syndrome. […] If UNITY Aneuploidy Screen results show a higher chance for a developing baby to have Triple X syndrome, it’s recommended that you discuss the results and the implications with your healthcare provider or a genetic counselor.

• #11 Triple X syndrome: Symptoms, chromosomes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/187322

  Triple X syndrome can be diagnosed before the baby is born, through chorionic villus sampling (CVS) or amniocentesis, and a blood test after she is born. […] Diagnosis can be made with the help of analyzing a sample of amniotic fluid (amniocentesis). […] CVS tissue is taken from the placenta for examination, usually between the 8th and 10th week of pregnancy if the mother opts for it. This test is done to diagnose severe abnormalities that may be affecting the fetus; it is not specifically to diagnose triple X syndrome, but this will also be picked up. […] Amniocentesis this may also be done during pregnancy. Some amniotic fluid is collected and analyzed. […] Blood tests may be used for chromosome analysis after birth if the doctor notices unusual physical features or delays in development. […] All three tests examine the persons collection of chromosomes, known as the karyotype. […] There is no routine screening for triple X syndrome. If an embryo or fetus is found to have the syndrome, it is usually after screening for something else.

• #12 Triple X syndrome: Symptoms, chromosomes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/187322

  Triple X syndrome can be diagnosed before the baby is born, through chorionic villus sampling (CVS) or amniocentesis, and a blood test after she is born. […] Diagnosis can be made with the help of analyzing a sample of amniotic fluid (amniocentesis). […] CVS tissue is taken from the placenta for examination, usually between the 8th and 10th week of pregnancy if the mother opts for it. This test is done to diagnose severe abnormalities that may be affecting the fetus; it is not specifically to diagnose triple X syndrome, but this will also be picked up. […] Amniocentesis this may also be done during pregnancy. Some amniotic fluid is collected and analyzed. […] Blood tests may be used for chromosome analysis after birth if the doctor notices unusual physical features or delays in development. […] All three tests examine the persons collection of chromosomes, known as the karyotype. […] There is no routine screening for triple X syndrome. If an embryo or fetus is found to have the syndrome, it is usually after screening for something else.

• #13 Triple X Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/triple-x-syndrome

  Many girls with triple X syndrome are healthy and have no obvious symptoms. So sometimes the condition isn’t diagnosed or is only found while a doctor checks for a different issue. […] To diagnose triple X syndrome, doctors do a blood test to look for the extra X chromosome. Before birth, the condition may be found through karyotype test or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

• #14 Triple X Syndrome: Causes, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome

  How is triple X syndrome diagnosed? […] If your healthcare provider suspects that you (or your child) have trisomy X syndrome, they may order genetic testing. These tests might be called karyotype or chromosome microarray. […] If you’re pregnant, your healthcare provider may recommend prenatal genetic testing if you’re at higher risk for having a child with triple X syndrome either because you’re older than 35 or have triple X syndrome yourself. […] Even if prenatal testing suggests triple X syndrome, it’s still important to get genetic testing after the baby is born to confirm the diagnosis.

• #15 Triple X Syndrome | Condition | Unity Screen

  https://www.unityscreen.com/conditions/triple-x-syndrome

  UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can provide expecting parents important information about their chance to have a baby with Trisomy X, and other genetic conditions. […] UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can detect the risk of a developing baby having certain chromosomal disorders, including Triple X syndrome, as early as 9 weeks into pregnancy from the pregnant patients blood sample. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Triple X syndrome. […] UNITY Aneuploidy Screen is highly accurate at identifying pregnancies with an extra X chromosome. However, it is important to note that a positive result does not definitively mean that the baby has Triple X syndrome. […] If UNITY Aneuploidy Screen results show a higher chance for a developing baby to have Triple X syndrome, it’s recommended that you discuss the results and the implications with your healthcare provider or a genetic counselor.

• #16 Triple X Syndrome | Condition | Unity Screen

  https://www.unityscreen.com/conditions/triple-x-syndrome

  UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can provide expecting parents important information about their chance to have a baby with Trisomy X, and other genetic conditions. […] UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can detect the risk of a developing baby having certain chromosomal disorders, including Triple X syndrome, as early as 9 weeks into pregnancy from the pregnant patients blood sample. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Triple X syndrome. […] UNITY Aneuploidy Screen is highly accurate at identifying pregnancies with an extra X chromosome. However, it is important to note that a positive result does not definitively mean that the baby has Triple X syndrome. […] If UNITY Aneuploidy Screen results show a higher chance for a developing baby to have Triple X syndrome, it’s recommended that you discuss the results and the implications with your healthcare provider or a genetic counselor.

• #17 47,XXX Result on NIPT Report: What is Triple X Syndrome and Next Steps – The ObG Project

  https://www.obgproject.com/2022/09/30/47-xxx-result-from-nips-what-is-triple-x-syndrome-and-next-steps/

  47,XXX can be identified by NIPT, but not by a serum screening test such as a quad or first trimester screen. […] A positive NIPT result for 47,XXX may indicate that either the biologic mother or fetus is affected. […] If fetal diagnostic testing is negative, consider maternal karyotyping. […] Triple X syndrome can be diagnosed prenatally via fetal karyotype from CVS or amniocentesis. […] Prenatal diagnosis of Triple X syndrome is often unexpected in the context of routine aneuploidy screening or testing for other fetal chromosome abnormalities. […] Prenatal detection of Triple X Syndrome has increased in recent years given the use of NIPT. […] Diagnostic testing is necessary to confirm any positive result from NIPT.

• #18 47,XXX Result on NIPT Report: What is Triple X Syndrome and Next Steps – The ObG Project

  https://www.obgproject.com/2022/09/30/47-xxx-result-from-nips-what-is-triple-x-syndrome-and-next-steps/

  47,XXX can be identified by NIPT, but not by a serum screening test such as a quad or first trimester screen. […] A positive NIPT result for 47,XXX may indicate that either the biologic mother or fetus is affected. […] If fetal diagnostic testing is negative, consider maternal karyotyping. […] Triple X syndrome can be diagnosed prenatally via fetal karyotype from CVS or amniocentesis. […] Prenatal diagnosis of Triple X syndrome is often unexpected in the context of routine aneuploidy screening or testing for other fetal chromosome abnormalities. […] Prenatal detection of Triple X Syndrome has increased in recent years given the use of NIPT. […] Diagnostic testing is necessary to confirm any positive result from NIPT.

• #19 Mayo Clinic Health Library – Triple X syndrome | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20155325

  Because many girls and women with triple X syndrome are healthy and show no outward signs of the condition, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. […] Triple X syndrome may also be discovered during prenatal testing to identify other genetic disorders. […] If triple X syndrome is suspected after birth based on signs and symptoms, it can be confirmed by genetic testing. In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple X syndrome.

• #20 Triple X Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/triple-x-syndrome

  Many girls with triple X syndrome are healthy and have no obvious symptoms. So sometimes the condition isn’t diagnosed or is only found while a doctor checks for a different issue. […] To diagnose triple X syndrome, doctors do a blood test to look for the extra X chromosome. Before birth, the condition may be found through karyotype test or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

• #21 Triple X Syndrome: Symptoms, Causes, Treatment, and Diagnosis | FindATopDoc

  https://www.findatopdoc.com/Medical-Library/Diseases-and-Conditions/Triple-X-Syndrome

  Many girls with triple X syndrome are healthy and do not experience any symptoms; therefore, they remain undiagnosed. […] Triple X syndrome diagnosis can be confirmed by genetic testing, in which the chromosomes are analyzed in a blood sample. Before genetic testing, genetic counselling is important to get more information about the disorder.

• #22 Triple X Syndrome: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/triple-x-syndrome

  Symptoms that may prompt a doctor to test for Triple X Syndrome include developmental delays or intellectual disability, speech and language delays, tall stature, and delayed or absent puberty. Some individuals with Triple X Syndrome may also have behavioral or emotional difficulties, although these symptoms can be highly variable and not everyone with the condition experiences them. […] The diagnostic tests for Triple X Syndrome are generally highly accurate, although false positives and false negatives can occur. According to a review article published in the Journal of Pediatric Genetics, karyotype analysis has a sensitivity of 100% and specificity of 99.99% for detecting Triple X Syndrome. However, it is important to note that karyotyping may not detect mosaic forms of Triple X Syndrome where only some cells have the extra X chromosome. In cases where karyotyping is inconclusive, further genetic testing may be necessary.

• #23 Trisomy X – Wikipedia

  https://en.wikipedia.org/wiki/Trisomy_X

  Chromosome aneuploidies such as trisomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood, bone marrow, amniotic fluid, or placental cells. […] As trisomy X is generally mild or asymptomatic, most cases are never diagnosed. Around 10% of cases of trisomy X are diagnosed in the person’s lifetime; many are ascertained coincidentally during prenatal testing via amniocentesis or chorionic villi sampling, which is routinely performed for advanced maternal age. […] Postnatal testing is typically prompted by tall stature, hypotonia, developmental disability, mild dysmorphic features such as hypertelorism or clinodactyly, and premature ovarian failure.

• #24 Trisomy X – Wikipedia

  https://en.wikipedia.org/wiki/Trisomy_X

  Chromosome aneuploidies such as trisomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood, bone marrow, amniotic fluid, or placental cells. […] As trisomy X is generally mild or asymptomatic, most cases are never diagnosed. Around 10% of cases of trisomy X are diagnosed in the person’s lifetime; many are ascertained coincidentally during prenatal testing via amniocentesis or chorionic villi sampling, which is routinely performed for advanced maternal age. […] Postnatal testing is typically prompted by tall stature, hypotonia, developmental disability, mild dysmorphic features such as hypertelorism or clinodactyly, and premature ovarian failure.

• #25 Trisomy X – Wikipedia

  https://en.wikipedia.org/wiki/Trisomy_X

  Chromosome aneuploidies such as trisomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood, bone marrow, amniotic fluid, or placental cells. […] As trisomy X is generally mild or asymptomatic, most cases are never diagnosed. Around 10% of cases of trisomy X are diagnosed in the person’s lifetime; many are ascertained coincidentally during prenatal testing via amniocentesis or chorionic villi sampling, which is routinely performed for advanced maternal age. […] Postnatal testing is typically prompted by tall stature, hypotonia, developmental disability, mild dysmorphic features such as hypertelorism or clinodactyly, and premature ovarian failure.

• #26 Triple X Syndrome: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/triple-x-syndrome

  Symptoms that may prompt a doctor to test for Triple X Syndrome include developmental delays or intellectual disability, speech and language delays, tall stature, and delayed or absent puberty. Some individuals with Triple X Syndrome may also have behavioral or emotional difficulties, although these symptoms can be highly variable and not everyone with the condition experiences them. […] The diagnostic tests for Triple X Syndrome are generally highly accurate, although false positives and false negatives can occur. According to a review article published in the Journal of Pediatric Genetics, karyotype analysis has a sensitivity of 100% and specificity of 99.99% for detecting Triple X Syndrome. However, it is important to note that karyotyping may not detect mosaic forms of Triple X Syndrome where only some cells have the extra X chromosome. In cases where karyotyping is inconclusive, further genetic testing may be necessary.

• #27 Triple X Syndrome: Symptoms, Causes, Treatment, and More

  https://www.healthline.com/health/triple-x-syndrome

  Most women and girls with triple X syndrome dont exhibit any outward signs. They live healthy lives, which is why so many cases go undetected. A diagnosis can be made through genetic testing. This testing can be performed after birth by taking a blood sample. It can also be done before birth by more sophisticated tests like amniocentesis and chorionic villus sampling, which analyze the tissues and cells of a fetus.

• #28 Triple X Syndrome: Causes, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome

  How is triple X syndrome diagnosed? […] If your healthcare provider suspects that you (or your child) have trisomy X syndrome, they may order genetic testing. These tests might be called karyotype or chromosome microarray. […] If you’re pregnant, your healthcare provider may recommend prenatal genetic testing if you’re at higher risk for having a child with triple X syndrome either because you’re older than 35 or have triple X syndrome yourself. […] Even if prenatal testing suggests triple X syndrome, it’s still important to get genetic testing after the baby is born to confirm the diagnosis.

• #29

  https://www.snec.com.sg/patient-care/conditions-treatments/triple-x-syndrome

  The diagnosis of triple X syndrome is made by looking at the complete set of chromosomes of the individual. This is called a karyotype. A karyotype shows the number and visual appearance of the chromosomes found in the cells of a person. […] The diagnosis can be made by taking a sample of amniotic fluid, or other foetal tissue, to look at the foetal karyotype. […] The diagnosis is confirmed by taking a sample of blood or other tissue to obtain a karyotype.

• #30 Triple X syndrome – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/triple-h-chromosomal-syndrome/

  Triple X syndrome (also known as 47,XXX syndrome) is a genetic condition caused by the presence of an extra X chromosome in females, resulting in a genotype of 47,XXX instead of the normal 46,XX. […] Understanding this condition is important for timely diagnosis and management, as the syndrome can present differently in different people. […] Diagnosis of triple X syndrome usually begins with a clinical evaluation and determination of key symptoms, which may include: […] Laboratory tests play a key role in confirming the diagnosis, including: […] Karyotyping is the main method that allows visualization of the chromosome set and determination of the presence of an additional X chromosome. […] Fluorescence in situ hybridization (FISH) is a more specific method that helps detect abnormalities with accuracy.

• #31 Triple X Syndrome – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/triple-x-syndrome.html

  Triple X syndrome is a genetic condition found in females only. About 1 in 1,000 girls have it. […] To diagnose triple X syndrome, doctors do a blood test to look for the extra X chromosome. Before birth, the condition may be found through karyotype test or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

• #32 Triple X Syndrome: Causes, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome

  How is triple X syndrome diagnosed? […] If your healthcare provider suspects that you (or your child) have trisomy X syndrome, they may order genetic testing. These tests might be called karyotype or chromosome microarray. […] If you’re pregnant, your healthcare provider may recommend prenatal genetic testing if you’re at higher risk for having a child with triple X syndrome either because you’re older than 35 or have triple X syndrome yourself. […] Even if prenatal testing suggests triple X syndrome, it’s still important to get genetic testing after the baby is born to confirm the diagnosis.

• #33 Triple X syndrome – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/triple-h-chromosomal-syndrome/

  Triple X syndrome (also known as 47,XXX syndrome) is a genetic condition caused by the presence of an extra X chromosome in females, resulting in a genotype of 47,XXX instead of the normal 46,XX. […] Understanding this condition is important for timely diagnosis and management, as the syndrome can present differently in different people. […] Diagnosis of triple X syndrome usually begins with a clinical evaluation and determination of key symptoms, which may include: […] Laboratory tests play a key role in confirming the diagnosis, including: […] Karyotyping is the main method that allows visualization of the chromosome set and determination of the presence of an additional X chromosome. […] Fluorescence in situ hybridization (FISH) is a more specific method that helps detect abnormalities with accuracy.

• #34 Triple X syndrome: Symptoms, chromosomes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/187322

  Triple X syndrome can be diagnosed before the baby is born, through chorionic villus sampling (CVS) or amniocentesis, and a blood test after she is born. […] Diagnosis can be made with the help of analyzing a sample of amniotic fluid (amniocentesis). […] CVS tissue is taken from the placenta for examination, usually between the 8th and 10th week of pregnancy if the mother opts for it. This test is done to diagnose severe abnormalities that may be affecting the fetus; it is not specifically to diagnose triple X syndrome, but this will also be picked up. […] Amniocentesis this may also be done during pregnancy. Some amniotic fluid is collected and analyzed. […] Blood tests may be used for chromosome analysis after birth if the doctor notices unusual physical features or delays in development. […] All three tests examine the persons collection of chromosomes, known as the karyotype. […] There is no routine screening for triple X syndrome. If an embryo or fetus is found to have the syndrome, it is usually after screening for something else.

• #35 Triple X syndrome – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/triple-h-chromosomal-syndrome/

  Triple X syndrome (also known as 47,XXX syndrome) is a genetic condition caused by the presence of an extra X chromosome in females, resulting in a genotype of 47,XXX instead of the normal 46,XX. […] Understanding this condition is important for timely diagnosis and management, as the syndrome can present differently in different people. […] Diagnosis of triple X syndrome usually begins with a clinical evaluation and determination of key symptoms, which may include: […] Laboratory tests play a key role in confirming the diagnosis, including: […] Karyotyping is the main method that allows visualization of the chromosome set and determination of the presence of an additional X chromosome. […] Fluorescence in situ hybridization (FISH) is a more specific method that helps detect abnormalities with accuracy.

• #36 Triple X Syndrome: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/triple-x-syndrome

  Symptoms that may prompt a doctor to test for Triple X Syndrome include developmental delays or intellectual disability, speech and language delays, tall stature, and delayed or absent puberty. Some individuals with Triple X Syndrome may also have behavioral or emotional difficulties, although these symptoms can be highly variable and not everyone with the condition experiences them. […] The diagnostic tests for Triple X Syndrome are generally highly accurate, although false positives and false negatives can occur. According to a review article published in the Journal of Pediatric Genetics, karyotype analysis has a sensitivity of 100% and specificity of 99.99% for detecting Triple X Syndrome. However, it is important to note that karyotyping may not detect mosaic forms of Triple X Syndrome where only some cells have the extra X chromosome. In cases where karyotyping is inconclusive, further genetic testing may be necessary.

• #37 Triple X Syndrome: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/triple-x-syndrome

  Symptoms that may prompt a doctor to test for Triple X Syndrome include developmental delays or intellectual disability, speech and language delays, tall stature, and delayed or absent puberty. Some individuals with Triple X Syndrome may also have behavioral or emotional difficulties, although these symptoms can be highly variable and not everyone with the condition experiences them. […] The diagnostic tests for Triple X Syndrome are generally highly accurate, although false positives and false negatives can occur. According to a review article published in the Journal of Pediatric Genetics, karyotype analysis has a sensitivity of 100% and specificity of 99.99% for detecting Triple X Syndrome. However, it is important to note that karyotyping may not detect mosaic forms of Triple X Syndrome where only some cells have the extra X chromosome. In cases where karyotyping is inconclusive, further genetic testing may be necessary.

• #38 Trisomy X: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-x/

  Trisomy X, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female’s cells. […] Trisomy X is associated with an increased risk of learning disabilities and delayed development of speech and language skills. […] This condition occurs in about 1 in 1,000 female newborns; however, many of these affected individuals are never diagnosed. […] Most cases of trisomy X are not inherited. […] An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. […] 46,XX/47,XXX mosaicism is also not inherited. […] Genetic Testing Registry: Trisomy X syndrome. […] Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

• #39 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Triple-X-Syndrome.aspx

  Early studies have suggested that the diagnosis of Triple X syndrome leads to better outcomes in females with respect to neurodevelopmental outcomes, including IQ and decreased the frequency of academic difficulties and psychiatric conditions. However, these studies were limited by their small sample size and design. More comprehensive studies took a longitudinal approach whereby the females who were identified prospectively were monitored as part of a multicentre study of sex chromosome aneuploidies. […] These studies highlighted that intellectual disabilities seen in triple X syndrome patients fell within the normal range, although mean IQ points were 10-15 points lower than their sibling controls. They were also identified as high-risk for the development of learning and development programme, psychological difficulties and motor deficits. In a more recent study which analysed 74 females, the outcomes echoed earlier studies; finding that prenatally diagnosed females fare better with regards to cognitive and functional outcomes. However, these females are still at risk for neurodevelopmental disorders. As a result, genetic counselling is recommended.

• #40 Mayo Clinic Health Library – Triple X syndrome | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20155325

  Because many girls and women with triple X syndrome are healthy and show no outward signs of the condition, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. […] Triple X syndrome may also be discovered during prenatal testing to identify other genetic disorders. […] If triple X syndrome is suspected after birth based on signs and symptoms, it can be confirmed by genetic testing. In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple X syndrome.

• #41 Triple X syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/triple-x-syndrome

  Triple X syndrome is also called trisomy X or 47,XXX, is a genetic disorder that affects about 1 in 1,000 females. […] Treatment for triple X syndrome depends on which symptoms, if any, are present and their severity. […] Triple X syndrome may also be discovered during prenatal testing to identify other genetic disorders. […] If triple X syndrome is suspected after birth based on signs and symptoms, it can be confirmed by genetic testing. […] Genetic testing of the fluid or tissue will show if there’s an extra, third, X chromosome. […] In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple X syndrome.

• #42 Triple X Syndrome | Condition | Unity Screen

  https://www.unityscreen.com/conditions/triple-x-syndrome

  UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can provide expecting parents important information about their chance to have a baby with Trisomy X, and other genetic conditions. […] UNITY Aneuploidy Screen is a non-invasive prenatal test (NIPT) that can detect the risk of a developing baby having certain chromosomal disorders, including Triple X syndrome, as early as 9 weeks into pregnancy from the pregnant patients blood sample. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Triple X syndrome. […] UNITY Aneuploidy Screen is highly accurate at identifying pregnancies with an extra X chromosome. However, it is important to note that a positive result does not definitively mean that the baby has Triple X syndrome. […] If UNITY Aneuploidy Screen results show a higher chance for a developing baby to have Triple X syndrome, it’s recommended that you discuss the results and the implications with your healthcare provider or a genetic counselor.

• #43 What Is Triple X Syndrome?

  https://www.icliniq.com/articles/genetic-disorders/triple-x-syndrome

  2. Genetic Testing: The presence of triple X syndrome can be confirmed with the help of genetic testing. […] 3. Chromosome Microarray or Karyotyping: It helps detect an extra X chromosome present and the degree of masochism. […] In addition, the below tests are recommended to determine the conditions associated with triple X syndrome: […] An echocardiogram or electrocardiogram is done to determine the abnormalities in the heart. […] Kidney structure is evaluated with the help of renal ultrasound. […] Neuropsychological testing.

• #44 Triple X Syndrome with a Rare Finding: Cleft Palate – The Journal of Pediatric Research

  https://jpedres.org/articles/triple-x-syndrome-with-a-rare-finding-cleft-palate/doi/jpr.32154

  Triple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra X chromosome. The patients with Triple X syndrome have a wide range of phenotypic variability. […] Herein, we report on a patient with Triple X syndrome and cleft palate (CP). Cleft lip and palate were described only in one paper describing two patients with Triple X syndrome. […] Chromosome analysis using G-band technique revealed a 47,XXX karyotype. […] After the diagnosis of Triple X syndrome, in order to investigate the abnormalities associated with this syndrome, an abdominal ultrasound and echocardiography were performed and both of them were normal. […] Our case provides a rare example of Triple X syndrome with CP. We cannot conclude that there is a causal relationship between these two but we want to draw attention to the possible association between triple X and CP.

• #45 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits. Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

• #46 Triple X syndrome: a review of the literature | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2009109

  The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. […] In cases of prenatal diagnosis, parents and clinical genetic counsellors needed information about this syndrome. […] After postnatal diagnosis, this information is useful for parents and for clinical geneticists, paediatricians, gynaecologists, (child) neurologists, (child) psychiatrists and others. […] To the best of our knowledge, prenatal cases of triple X syndrome have not been suspected on just clinical grounds. […] In cases with a prenatal 47,XXX diagnosis, it seems to be common sense to give special attention to the urogenital tract in prenatal ultrasound investigations to offer the opportunity of early intervention after birth.

• #47 Triple X syndrome: a review of the literature | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2009109

  The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. […] Preventive management is meant to prevent developmental and educational delay. […] We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. […] Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. […] In psychiatric research, it would be interesting to study the relation between low self-esteem and paranoid ideations.

• #48 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  In the first papers on the newborn-screening studies, 43 girls with an extra X chromosome were described. The prevalence seemed to be 0.1%. The mean birth weight was 2979g, 400500g less than that in the controls. The aneuploid status would not have been suspected at birth. […] The biased studies more often show malformations. Ten years after the first description of triple X syndrome, one-third of 155 cases had a congenital physical defect. […] The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. This might explain some of the problems in forming stable interpersonal relationships. […] Preventive management is meant to prevent developmental and educational delay. As we mentioned above, EEG abnormalities, urogenital disorders and ophthalmological disorders seem to be more common in triple X syndrome and require clinical attention. We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. Our threshold for a thorough assessment is even lower than that recommended by others. It is our clinical experience that developmental, behavioural or educational difficulties are often caused by linguistic, auditory and neurocognitive disorders as well as a lack of awareness and understanding on the part of clinicians, parents, teachers, etc.

• #49 XXX Chromosome Disorder: Causes, Symptoms, and Treatment

  https://www.apollohospitals.com/diseases-and-conditions/triple-x-syndrome-causes-symptoms-treatment

  Many women and girls with Triple X Syndrome do not show any outward signs, and many cases go undetected. They live healthy lives. Genetic testing can diagnose Triple X Syndrome. This test can be done by taking a blood sample after birth. Before birth, a genetic testing using sophisticated methods such as amniocentesis and chorionic villus sampling to analyse the tissues and cells of a fetus, can be performed as well. […] A majority of females with XXX syndrome are quite healthy with no apparent signs and symptoms of the disease. Therefore, this disorder goes unnoticed or undiagnosed in some cases, or it is detected only when you go to your doctor for other health issues. […] According to research, early detection followed by early intervention can improve the symptoms.

• #50 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Triple-X-Syndrome.aspx

  Early studies have suggested that the diagnosis of Triple X syndrome leads to better outcomes in females with respect to neurodevelopmental outcomes, including IQ and decreased the frequency of academic difficulties and psychiatric conditions. However, these studies were limited by their small sample size and design. More comprehensive studies took a longitudinal approach whereby the females who were identified prospectively were monitored as part of a multicentre study of sex chromosome aneuploidies. […] These studies highlighted that intellectual disabilities seen in triple X syndrome patients fell within the normal range, although mean IQ points were 10-15 points lower than their sibling controls. They were also identified as high-risk for the development of learning and development programme, psychological difficulties and motor deficits. In a more recent study which analysed 74 females, the outcomes echoed earlier studies; finding that prenatally diagnosed females fare better with regards to cognitive and functional outcomes. However, these females are still at risk for neurodevelopmental disorders. As a result, genetic counselling is recommended.

• #51 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Triple-X-Syndrome.aspx

  The diagnosis of triple X syndrome is made through a process called cytogenetic karyotype testing or microarray analysis. Cytogenetic karyotype testing is an examination of chromosomes that identifies the chromosomal number and any abnormalities. Microarrays enable duplications of entire chromosomes to be detected. Prenatal diagnosis, by contrast, is made by amniocentesis or chorionic villi sampling. Patients diagnosed in the prenatal period tend to have better outcomes as early intervention therapies are implemented when needed. […] Owing to a high number of cases not presenting any physical abnormalities, the majority of females with the condition do not seek medical attention nor have their chromosomes tested. The condition often remains undiagnosed until adulthood, when the chromosomal abnormality is detected for reasons of primary amenorrhea. Patients you do present with symptoms are diagnosed earlier in childhood.

• #52 XXX Chromosome Disorder: Causes, Symptoms, and Treatment

  https://www.apollohospitals.com/diseases-and-conditions/triple-x-syndrome-causes-symptoms-treatment

  Many women and girls with Triple X Syndrome do not show any outward signs, and many cases go undetected. They live healthy lives. Genetic testing can diagnose Triple X Syndrome. This test can be done by taking a blood sample after birth. Before birth, a genetic testing using sophisticated methods such as amniocentesis and chorionic villus sampling to analyse the tissues and cells of a fetus, can be performed as well. […] A majority of females with XXX syndrome are quite healthy with no apparent signs and symptoms of the disease. Therefore, this disorder goes unnoticed or undiagnosed in some cases, or it is detected only when you go to your doctor for other health issues. […] According to research, early detection followed by early intervention can improve the symptoms.

• #53 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  In the first papers on the newborn-screening studies, 43 girls with an extra X chromosome were described. The prevalence seemed to be 0.1%. The mean birth weight was 2979g, 400500g less than that in the controls. The aneuploid status would not have been suspected at birth. […] The biased studies more often show malformations. Ten years after the first description of triple X syndrome, one-third of 155 cases had a congenital physical defect. […] The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. This might explain some of the problems in forming stable interpersonal relationships. […] Preventive management is meant to prevent developmental and educational delay. As we mentioned above, EEG abnormalities, urogenital disorders and ophthalmological disorders seem to be more common in triple X syndrome and require clinical attention. We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. Our threshold for a thorough assessment is even lower than that recommended by others. It is our clinical experience that developmental, behavioural or educational difficulties are often caused by linguistic, auditory and neurocognitive disorders as well as a lack of awareness and understanding on the part of clinicians, parents, teachers, etc.

• #54 Triple X syndrome: a review of the literature | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2009109

  The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. […] Preventive management is meant to prevent developmental and educational delay. […] We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. […] Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. […] In psychiatric research, it would be interesting to study the relation between low self-esteem and paranoid ideations.

• #55 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits. Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

• #56 What is Triple X Syndrome?

  https://www.medreport.foundation/post/what-is-triple-x-syndrome

  If you have one extra X chromosome, youre most likely a female that has this rare genetic disorder called Triple X Syndrome. […] However, to see if youre diagnosed or not, you would have to go through genetic testing. The tests are either karyotyping or chromosome microarray. […] According to Mayo Clinic, they offer periodic screenings, early intervention services, educational assistance, supportive environment counseling, and assistance in daily functioning.

• #57 Triple X syndrome – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/triple-h-chromosomal-syndrome/

  The differential diagnosis should consider other genetic disorders, such as Klinefelter syndrome or syndromes with chromosomal abnormalities. […] How is triple X syndrome diagnosed? Diagnosis includes clinical evaluation, karyotyping, and fluorescence in situ hybridization techniques to determine the presence of an extra X chromosome.

• #58 Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey | Anticancer Research

  https://ar.iiarjournals.org/content/39/12/6769

  Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. […] Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. […] Conclusion: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. […] Differential diagnosis of TXS before definitive karyotype results are available includes FXS, among other mutations. […] The following report is of a patient with known TXS and premutation stage FXS who required diagnostic and therapeutic measures due to visible and symptomatic facial tumor development.

• #59 Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

  https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0213-61632009000100003

  Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome […] This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. […] Cytogenetic analysis revealed a 47,XXX karyotype. […] It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counselling and initiate cascade screening where applicable. […] This case report highlights the importance of consideration of cytogenetic and molecular investigations in patients with a complex neuro-behavioural profile and/or psychotic disorders, particularly in the presence of a family history of learning difficulties and/or dysmorphic features.

• #60 Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey | Anticancer Research

  https://ar.iiarjournals.org/content/39/12/6769

  Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. […] Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. […] Conclusion: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. […] Differential diagnosis of TXS before definitive karyotype results are available includes FXS, among other mutations. […] The following report is of a patient with known TXS and premutation stage FXS who required diagnostic and therapeutic measures due to visible and symptomatic facial tumor development.

• #61 Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

  https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0213-61632009000100003

  Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome […] This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. […] Cytogenetic analysis revealed a 47,XXX karyotype. […] It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counselling and initiate cascade screening where applicable. […] This case report highlights the importance of consideration of cytogenetic and molecular investigations in patients with a complex neuro-behavioural profile and/or psychotic disorders, particularly in the presence of a family history of learning difficulties and/or dysmorphic features.

• #62 Triple X Syndrome with a Rare Finding: Cleft Palate – The Journal of Pediatric Research

  https://jpedres.org/articles/triple-x-syndrome-with-a-rare-finding-cleft-palate/doi/jpr.32154

  Triple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra X chromosome. The patients with Triple X syndrome have a wide range of phenotypic variability. […] Herein, we report on a patient with Triple X syndrome and cleft palate (CP). Cleft lip and palate were described only in one paper describing two patients with Triple X syndrome. […] Chromosome analysis using G-band technique revealed a 47,XXX karyotype. […] After the diagnosis of Triple X syndrome, in order to investigate the abnormalities associated with this syndrome, an abdominal ultrasound and echocardiography were performed and both of them were normal. […] Our case provides a rare example of Triple X syndrome with CP. We cannot conclude that there is a causal relationship between these two but we want to draw attention to the possible association between triple X and CP.

• #63 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits. Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

• #64 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. Notwithstanding the relatively high prevalence of triple X syndrome, there are many issues yet to be studied in physical and behavioural development up to old age.

• #65 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Triple-X-Syndrome.aspx

  Early studies have suggested that the diagnosis of Triple X syndrome leads to better outcomes in females with respect to neurodevelopmental outcomes, including IQ and decreased the frequency of academic difficulties and psychiatric conditions. However, these studies were limited by their small sample size and design. More comprehensive studies took a longitudinal approach whereby the females who were identified prospectively were monitored as part of a multicentre study of sex chromosome aneuploidies. […] These studies highlighted that intellectual disabilities seen in triple X syndrome patients fell within the normal range, although mean IQ points were 10-15 points lower than their sibling controls. They were also identified as high-risk for the development of learning and development programme, psychological difficulties and motor deficits. In a more recent study which analysed 74 females, the outcomes echoed earlier studies; finding that prenatally diagnosed females fare better with regards to cognitive and functional outcomes. However, these females are still at risk for neurodevelopmental disorders. As a result, genetic counselling is recommended.

• #66 Triple X syndrome: a review of the literature | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2009109

  The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. […] Preventive management is meant to prevent developmental and educational delay. […] We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. […] Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. […] In psychiatric research, it would be interesting to study the relation between low self-esteem and paranoid ideations.

• #67 Triple X syndrome: a review of the literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/

  In the first papers on the newborn-screening studies, 43 girls with an extra X chromosome were described. The prevalence seemed to be 0.1%. The mean birth weight was 2979g, 400500g less than that in the controls. The aneuploid status would not have been suspected at birth. […] The biased studies more often show malformations. Ten years after the first description of triple X syndrome, one-third of 155 cases had a congenital physical defect. […] The youngest cases seem to suffer from a delay in language development. Auditory-processing disorders may be responsible for this delay. Furthermore, delay in language development may be responsible for a delay in social cognition and functioning. This might explain some of the problems in forming stable interpersonal relationships. […] Preventive management is meant to prevent developmental and educational delay. As we mentioned above, EEG abnormalities, urogenital disorders and ophthalmological disorders seem to be more common in triple X syndrome and require clinical attention. We recommend regular neuropsychological and linguistic testing using test batteries suited to the consecutive age groups. Our threshold for a thorough assessment is even lower than that recommended by others. It is our clinical experience that developmental, behavioural or educational difficulties are often caused by linguistic, auditory and neurocognitive disorders as well as a lack of awareness and understanding on the part of clinicians, parents, teachers, etc.

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