Materiały źródłowe

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

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

  Triple X syndrome is a genetic disorder caused by the presence of a third X chromosome. Although its genetic, its not usually passed down from a parent (inherited). Most cases are caused by errors that happen when chromosomes multiply and divide during the formation of egg or sperm cells. They occur by chance (sporadic). […] Since triple X syndrome is rare, we dont have that many large studies that look at the brain in people with the condition. Theres a small study of 35 children with trisomy X. The researchers found that their brains were smaller than those of typical kids of the same age and sex. The brain areas most affected were those involved in language and executive function. Anxiety was the most common mental health condition, affecting 40% of the kids with triple X syndrome. But more, larger studies are needed to confirm these findings.

• #2 Triple X syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/symptoms-causes/syc-20350977

  Triple X syndrome, also called trisomy X or 47,XXX, is a genetic disorder that affects about 1 in 1,000 females. […] Females with triple X syndrome have a third X chromosome from a random error in cell division. This error can happen before conception or early in the embryo’s development, resulting in one of these forms of triple X syndrome: […] In most cases, either the mother’s egg cell or the father’s sperm cell divides incorrectly, resulting in an extra X chromosome in the child. This random error is called nondisjunction, and all the cells in the child’s body will have the extra X chromosome. […] Occasionally, the extra chromosome results from an incorrect cell division caused by a random event early in the embryo’s development. If this is the case, the child has a mosaic form of triple X syndrome, and only some cells have the extra X chromosome. Females with the mosaic form may have less obvious symptoms. […] Triple X syndrome is also called 47,XXX syndrome because the extra X chromosome results in 47 chromosomes in each cell instead of the usual 46.

• #3 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. […] The incidence is 1 of 1000 females. […] At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. […] The maternal age seems to be increased. […] Toddlers with triple X syndrome show delayed language development. […] EEG abnormalities seem to be rather common. […] Many girls show motor-coordination problems and auditory-processing disorders are not rare. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] MRIs of the brain seem to show decreased brain volumes. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls.

• #4 Azthena logo with the word Azthena

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

  Triple X syndrome, also known as 47, XXX, Triple X, Triplo-X, or trisomy x is a sex chromosome aneuploidy, or chromosome abnormality, in which females have an additional X chromosome. […] The origin of trisomy X syndrome is what is known as maternal nondisjunction errors during meiosis. This is the failure of homologous chromosomes (chromosomal pairs) to separate properly after cell division, which leads to chromosomal imbalance or aneuploidy. […] At present only 10% of individuals with trisomy X are diagnosed; despite the high incidence compared to many genetic disorders. This is because of the subtle and nonspecific manifestations of the condition as such they do not prompt genetic testing.

• #5 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.

• #6 Trisomy X: MedlinePlus GeneticsLock

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

  Trisomy X results from an extra copy of the X chromosome in each of a female’s cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some affected individuals. […] Most cases of trisomy X are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body’s cells. […] 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person’s cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).

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

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

  Girls who have triple X syndrome are born with it. It’s called triple X because they have an extra X chromosome in most or all their cells. […] Triple X is not caused by anything the parents did or did not do. The disorder is a random error in cell division. This error can happen before conception in the reproductive cells of the mother or the father, or early in the embryo’s development. […] When the extra chromosome is due to incorrect cell division in the embryo, a girl may have a mosaic form of triple X syndrome. This means some cells have an extra X chromosome, but not all do. Girls with this type of triple X syndrome usually have fewer symptoms.

• #8 Triple X syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/symptoms-causes/syc-20350977

  Triple X syndrome, also called trisomy X or 47,XXX, is a genetic disorder that affects about 1 in 1,000 females. […] Females with triple X syndrome have a third X chromosome from a random error in cell division. This error can happen before conception or early in the embryo’s development, resulting in one of these forms of triple X syndrome: […] In most cases, either the mother’s egg cell or the father’s sperm cell divides incorrectly, resulting in an extra X chromosome in the child. This random error is called nondisjunction, and all the cells in the child’s body will have the extra X chromosome. […] Occasionally, the extra chromosome results from an incorrect cell division caused by a random event early in the embryo’s development. If this is the case, the child has a mosaic form of triple X syndrome, and only some cells have the extra X chromosome. Females with the mosaic form may have less obvious symptoms. […] Triple X syndrome is also called 47,XXX syndrome because the extra X chromosome results in 47 chromosomes in each cell instead of the usual 46.

• #9 Orphanet: Trisomy X syndrome

  https://www.orpha.net/en/disease/detail/3375

  Triple X syndrome is caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX) and commonly results from a nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. […] The phenotype in triple X syndrome is thought to be associated with overexpression of genes on the X-chromosome that escape X-inactivation however, specific genotype-phenotype relationships remain to be defined.

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

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

  Triple X is a chromosomal abnormality that affects approximately 1 in 1,000 women and girls. […] The syndrome generally results from a mistake in the formation of the fathers sperm cell or the mothers egg. Sometimes, triple X syndrome occurs when something goes wrong in the development of the embryo. […] It is caused by a random genetic error. […] Individuals with triple X syndrome have an extra X chromosome, as well as the XX pair. In other words, they are females (XX) with an extra X chromosome (XXX). […] Reasons why this might occur are: The mothers egg was not formed properly, known as nondisjunction all cells will be XXX. The fathers sperm was not formed properly, also called nondisjunction all cells will be XXX. A problem occurred while the embryo was developing. This is referred to as a mosaic form not all cells will be XXX. […] Most cases of triple X syndrome are caused by a malformed egg or sperm. Triple X syndrome is sometimes called 47 XXX syndrome because the extra chromosome gives the person 47 chromosomes, instead of the usual 46.

• #11 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. […] Trisomy X occurs via a process called nondisjunction, in which normal cell division is interrupted and produces gametes with too many or too few chromosomes. Nondisjunction is a random occurrence, and most girls and women with trisomy X have no family histories of chromosome aneuploidy. […] Proposed mechanisms behind the phenotype of Trisomy X include incomplete X-chromosome inactivation, and corresponding changes to DNA methylation and gene expression across the entire genome.

• #12

  https://journals.lww.com/jhrs/fulltext/2023/16020/unravelling_the_impact_of_an_additional_sex.12.aspx

  Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. […] The present case study report describes the clinical and cytogenomic profile of a female with recurrent pregnancy loss (RPL) highlighting the association between the decreased ovarian reserve and TXS. […] In 90% of 47,XXX conceptions, the additional X chromosome is derived from maternal non-disjunction during meiosis I, which has been linked to increased maternal age comparable to other chromosomal aneuploidies. […] Previous studies showed 3% of women had detected POI present with a 47,XXX karyotype; however, the prevalence of ovarian malfunction amongst TXS is unknown. […] Studies also recommended anti-Mllerian hormone (AMH) as a potential biomarker of the ovarian follicular reserve. Overall, the studies highlighted the association between TXS and ovarian dysfunction; however, the data are limited.

• #13 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. […] The incidence is 1 of 1000 females. […] The maternal age seems to be increased. […] EEG abnormalities seem to be rather common. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] MRIs of the brain seem to show decreased brain volumes. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] 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. […] The association between trisomy X in the offspring and maternal age is not as strong as in trisomy 21. […] The biased studies more often show malformations.

• #14 Genetic: Triple X Syndrome | Encyclopedia.com

  https://www.encyclopedia.com/medicine/encyclopedias-almanacs-transcripts-and-maps/genetic-triple-x-syndrome

  Triple X syndrome is caused by the presence of an extra X chromosome in the cells of a female’s body. […] The most common cause of triple X syndrome occurs when an egg carrying two copies of the X chromosome is involved in conception. The reason for the extra copy in the abnormal germ cell is a genetic error called nondisjunction. […] In nondisjunction, one daughter cell gets both members of the chromosome pair and the other cell has none. If a germ cell carrying two copies of the X chromosome is fertilized by a normal germ cell from the other parent, the child will have three copies of the X chromosome. This genetic error is called a full trisomy X. […] Some girls affected by triple X syndrome children have some body cells with the extra copy of the X chromosome and some body cells without the extra copy. This condition is called mosaic trisomy X. About half of women with triple X syndrome have the full trisomy X and the other half have mosaic trisomy X. […] Because triple X syndrome is thought to be caused by a spontaneous genetic mutation rather than an inherited genetic defect, there is no way to prevent it.

• #15 Orphanet: Trisomy X syndrome

  https://www.orpha.net/en/disease/detail/3375

  Triple X syndrome is caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX) and commonly results from a nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. […] The phenotype in triple X syndrome is thought to be associated with overexpression of genes on the X-chromosome that escape X-inactivation however, specific genotype-phenotype relationships remain to be defined.

• #16 Trisomy X: MedlinePlus GeneticsLock

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

  Trisomy X results from an extra copy of the X chromosome in each of a female’s cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some affected individuals. […] Most cases of trisomy X are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body’s cells. […] 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person’s cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).

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

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

  Girls who have triple X syndrome are born with it. It’s called triple X because they have an extra X chromosome in most or all their cells. […] Triple X is not caused by anything the parents did or did not do. The disorder is a random error in cell division. This error can happen before conception in the reproductive cells of the mother or the father, or early in the embryo’s development. […] When the extra chromosome is due to incorrect cell division in the embryo, a girl may have a mosaic form of triple X syndrome. This means some cells have an extra X chromosome, but not all do. Girls with this type of triple X syndrome usually have fewer symptoms.

• #18 Triple X Syndrome | Quirónsalud

  https://www.quironsalud.com/en/diseases-symptoms/triple-x-syndrome

  Triple X syndrome, also known as Trisomy X or 47,XXX, is a chromosomal anomaly in which an extra X chromosome is present, affecting only females. This syndrome occurs due to an error in cell division during the embryonic stage, resulting in three X chromosomes instead of two. […] Triple X syndrome occurs because affected females are born with an extra X chromosome in most of their cells. As a result, they have an XXX karyotype. […] The chromosomal division error can occur due to: Nondisjunction: Before conception, in either the egg or sperm. This affects all cells and produces more symptoms. […] Mosaicism: During embryonic development. Only some cells are affected, leading to milder or no symptoms.

• #19 A DETAILED LOOK AT TRIPLE X SYNDROME

  https://ccchclinic.com/detailed-look-triple-x-syndrome/

  The extra chromosome may sometimes be the result of incorrect cell division that had its roots in a random embryo development issue. Here, the child gets a mosaic type of the syndrome, where only some cells have the surplus X chromosome. Females that have this mosaic would show less obvious symptoms.

• #20 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. […] Trisomy X occurs via a process called nondisjunction, in which normal cell division is interrupted and produces gametes with too many or too few chromosomes. Nondisjunction is a random occurrence, and most girls and women with trisomy X have no family histories of chromosome aneuploidy. […] Proposed mechanisms behind the phenotype of Trisomy X include incomplete X-chromosome inactivation, and corresponding changes to DNA methylation and gene expression across the entire genome.

• #21 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. […] Trisomy X occurs via a process called nondisjunction, in which normal cell division is interrupted and produces gametes with too many or too few chromosomes. Nondisjunction is a random occurrence, and most girls and women with trisomy X have no family histories of chromosome aneuploidy. […] Proposed mechanisms behind the phenotype of Trisomy X include incomplete X-chromosome inactivation, and corresponding changes to DNA methylation and gene expression across the entire genome.

• #22 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

  Cytogenetic analysis revealed a 47,XXX karyotype. […] The above investigations concluded that the index case carried three copies of the X chromosome, two of which were maternally inherited, both carrying a full expansion at the FRAXA locus. […] Our patient presented with features of the Prader-Willi-like phenotype of Fragile X Syndrome including severe cognitive difficulties, behavioural problems, and morbid obesity secondary to extreme food consumption. […] In females, X-inactivation takes place early in embryogenesis to provide dosage compensation. […] It is likely therefore that this dosage effect is the cause of this phenotype.

• #23 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. […] Triple X syndrome (47,XXX) is a sex chromosomal abnormality. Affected females have an extra X chromosome. […] Triple X syndrome is the most common female chromosomal abnormality. Due to a nondisjunction event in the cell division, during gametogenesis or after conception, X chromosomes fail to properly separate resulting in a numerical abnormality. […] Fryns et al. (8) and Ramaekers et al. (9) suggested that the over expression of genes located on the X chromosome may have a gene dosage effect and may cause the developmental anomalies in the genitourinary system of triple X patients. This presumed dosage effect may also be applicable as the genesis of CP. […] 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.

• #24 Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor | European Psychiatry | Cambridge Core

  https://www.cambridge.org/core/journals/european-psychiatry/article/triple-x-syndrome-psychiatric-disorders-and-impaired-social-functioning-as-a-risk-factor/D5C9F122E824F633E297678083318EEE

  The relation between the extra X chromosome and psychiatric disorders in TXS remains to be elucidated. Several pathogenetic mechanisms have been hypothesized. The extra X chromosome might cause decreased cell-division rates, which might explain the smaller head circumference and the decreased total brain volumes in TXS. […] Gene dosage imbalances in X chromosomal genes that escape X chromosome inactivation and autosomal genes might also play a role in the pathophysiological process from the extra X chromosome to neurobiological disturbances and the subsequent psychiatric disorders. […] The current study adds to the knowledge of TXS syndrome that impaired social functioning appears to represent a risk factor in TXS as regards psychotic, affective disorders, attentional problems, and low self-esteem, but not in relation to traumatic experiences and suicidality.

• #25 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. […] Trisomy X occurs via a process called nondisjunction, in which normal cell division is interrupted and produces gametes with too many or too few chromosomes. Nondisjunction is a random occurrence, and most girls and women with trisomy X have no family histories of chromosome aneuploidy. […] Proposed mechanisms behind the phenotype of Trisomy X include incomplete X-chromosome inactivation, and corresponding changes to DNA methylation and gene expression across the entire genome.

• #26 Social functioning and emotion recognition in adults with triple X syndrome | BJPsych Open | Cambridge Core

  https://www.cambridge.org/core/journals/bjpsych-open/article/social-functioning-and-emotion-recognition-in-adults-with-triple-x-syndrome/6F6D47FAB84EFD9E9771FDA8E06FFA1B

  Triple X syndrome (TXS) is caused by aneuploidy of the X chromosome and is associated with impaired social functioning in children; however, its effect on social functioning and emotion recognition in adults is poorly understood. […] Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women. […] TXS has also been associated with impaired social functioning, a key characteristic in several neurodevelopmental, psychiatric and neurological disorders. The biological mechanisms underlying impaired social functioning are currently unknown; however, a growing body of evidence suggests that the sex chromosomes may play a role via haploinsufficiency, differences in the spatial organisation of chromosomes in the nucleus, or an increased dosage of X-linked and/or autosomal genes.

• #27 Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor | European Psychiatry | Cambridge Core

  https://www.cambridge.org/core/journals/european-psychiatry/article/triple-x-syndrome-psychiatric-disorders-and-impaired-social-functioning-as-a-risk-factor/D5C9F122E824F633E297678083318EEE

  The relation between the extra X chromosome and psychiatric disorders in TXS remains to be elucidated. Several pathogenetic mechanisms have been hypothesized. The extra X chromosome might cause decreased cell-division rates, which might explain the smaller head circumference and the decreased total brain volumes in TXS. […] Gene dosage imbalances in X chromosomal genes that escape X chromosome inactivation and autosomal genes might also play a role in the pathophysiological process from the extra X chromosome to neurobiological disturbances and the subsequent psychiatric disorders. […] The current study adds to the knowledge of TXS syndrome that impaired social functioning appears to represent a risk factor in TXS as regards psychotic, affective disorders, attentional problems, and low self-esteem, but not in relation to traumatic experiences and suicidality.

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

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

  Triple X syndrome is a genetic disorder caused by the presence of a third X chromosome. Although its genetic, its not usually passed down from a parent (inherited). Most cases are caused by errors that happen when chromosomes multiply and divide during the formation of egg or sperm cells. They occur by chance (sporadic). […] Since triple X syndrome is rare, we dont have that many large studies that look at the brain in people with the condition. Theres a small study of 35 children with trisomy X. The researchers found that their brains were smaller than those of typical kids of the same age and sex. The brain areas most affected were those involved in language and executive function. Anxiety was the most common mental health condition, affecting 40% of the kids with triple X syndrome. But more, larger studies are needed to confirm these findings.

• #29 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. […] The incidence is 1 of 1000 females. […] At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. […] The maternal age seems to be increased. […] Toddlers with triple X syndrome show delayed language development. […] EEG abnormalities seem to be rather common. […] Many girls show motor-coordination problems and auditory-processing disorders are not rare. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] MRIs of the brain seem to show decreased brain volumes. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls.

• #30 Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor | European Psychiatry | Cambridge Core

  https://www.cambridge.org/core/journals/european-psychiatry/article/triple-x-syndrome-psychiatric-disorders-and-impaired-social-functioning-as-a-risk-factor/D5C9F122E824F633E297678083318EEE

  The relation between the extra X chromosome and psychiatric disorders in TXS remains to be elucidated. Several pathogenetic mechanisms have been hypothesized. The extra X chromosome might cause decreased cell-division rates, which might explain the smaller head circumference and the decreased total brain volumes in TXS. […] Gene dosage imbalances in X chromosomal genes that escape X chromosome inactivation and autosomal genes might also play a role in the pathophysiological process from the extra X chromosome to neurobiological disturbances and the subsequent psychiatric disorders. […] The current study adds to the knowledge of TXS syndrome that impaired social functioning appears to represent a risk factor in TXS as regards psychotic, affective disorders, attentional problems, and low self-esteem, but not in relation to traumatic experiences and suicidality.

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

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

  Triple X, also called trisomy X and 47,XXX, is a genetic condition that occurs when a girl receives three X chromosomes from her parents. […] Due to a random malfunction in the way cells split at or right after conception, a girl may receive three X chromosomes, resulting in triple X. Some females have a third X chromosome in only some of their cells, resulting in no or very mild symptoms of the disorder. […] Having an extra X chromosome may affect areas of the brain that control what experts call executive functioning. […] Research suggests that girls with triple X have more anxiety, less-developed social skills, and higher rates of autism. […] Because of all these factors, girls with the condition can experience low self-esteem and low self-confidence, and have problems with interpersonal relationships.

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

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

  The newborn-screening studies did not involve EEG recordings. […] Olanders reported in his case series some form of paroxysmal abnormality in 13/21 cases, in four cases after photic stimulation. […] A common finding was a low-frequency background. […] His literature review showed that paroxysmal activity or increased photosensitivity occurred in 13/48 cases. […] These results were comparable with those found in Klinefelter syndrome. […] Other authors suggested that EEG anomalies in triple X syndrome are associated with mental retardation. […] Treatment with carbamazepine was effective in all but one case. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women. […] The process of X chromosome inactivation in trisomy X and other scientific issues require further study.

• #33 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. […] The incidence is 1 of 1000 females. […] At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. […] The maternal age seems to be increased. […] Toddlers with triple X syndrome show delayed language development. […] EEG abnormalities seem to be rather common. […] Many girls show motor-coordination problems and auditory-processing disorders are not rare. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] MRIs of the brain seem to show decreased brain volumes. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls.

• #34 Triple-X syndrome as a cause of primary ovarian insufficiency | ECE2021 | European Congress of Endocrinology 2021 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0073/ea0073aep597

  Triple-X syndrome (TXS) is a common (estimated incidence of 1/1000 women) but frequently undiagnosed chromosomal abnormality. […] Despite being idiopathic in 7490% of the cases, there are other etiologies, such as genetic causes (in up to 16% of cases). […] This patient did not show any phenotypic trait suggesting chromosomal aneuploidies and the reason for this might be due to the fact that only some cells presented this abnormality. […] Nevertheless, women with 47, XXX karyotype can be phenotypically normal.

• #35 Triple X syndrome: a review of the literature – PubMed

  https://pubmed.ncbi.nlm.nih.gov/19568271/

  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. […] 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. […] In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. […] 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.

• #36 Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.4076/1752-1947-3-8867

  Insulin resistance and other metabolic disturbances are more commonly identified in men with an extra X chromosome. […] However, testosterone treatment only partly corrected the metabolic problems of a sample of patients. […] Perhaps an unknown factor on the additional X chromosome is involved in the unfavorable fat distribution and insulin resistance. […] We report a patient with partial lipodystrophy including severe insulin resistance in the absence of any known lipodystrophy causing mutations discovered to have triplication of the X chromosome during genome-wide screening for CNV using a high-density oligonucleotide microarray.

• #37 A Case of Systemic Scleroderma in Triple X Syndrome

  https://www.jrd.or.kr/journal/view.html?volume=15&number=3&spage=277

  Systemic scleroderma is a collagen-vascular disease of unknown etiology. Although the pathogenesis is poorly understood, disease progression involves the vasculature, the immune system and extracellular matrix deposition. systemic scleroderma occurs 3∼8 times more frequently in women than men and pathogenesis of systemic scleroderma may be related to female X chromosome. but the role of X chromosome in autoimmunity has not been illustrated yet. Most recently reports, the disturbances in X chromosome and inactivation of X chromosome may be the cause of autoimmunity in abnormal sex chromosome syndrome. […] the author had experienced a woman with systemic scleroderma who had been diagnosed to triple X syndrome due to infertility in the past. which was very rare case and not reported yet. So the author report a case of systemic scleroderma with triple X syndrome with literature review.

• #38 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

  Cytogenetic analysis revealed a 47,XXX karyotype. […] The above investigations concluded that the index case carried three copies of the X chromosome, two of which were maternally inherited, both carrying a full expansion at the FRAXA locus. […] Our patient presented with features of the Prader-Willi-like phenotype of Fragile X Syndrome including severe cognitive difficulties, behavioural problems, and morbid obesity secondary to extreme food consumption. […] In females, X-inactivation takes place early in embryogenesis to provide dosage compensation. […] It is likely therefore that this dosage effect is the cause of this phenotype.

• #39 Fragile X syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/fragile-x-syndrome/

  Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses. […] Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment turns off (silences) the FMR1 gene, which prevents the gene from producing FMRP. Loss or a shortage (deficiency) of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome.

• #40 TRIPLE X SYNDROME (TRISOMY X)

  https://medicover-genetics.com/product/triple-x-syndrome/

  Triple X syndrome is characterized by a trisomy of the X chromosome. […] Triple X syndrome is caused by an extra X chromosome. In 98% of patients, trisomy X is found in all cells, while 2% show mosaicism (extra X chromosome is only in some cells). […] The clinical effects are highly variable, and any women with triple X are never diagnosed. Diagnosis is confirmed by karyotype or chromosomal microarray.

• #41 Triple-X syndrome as a cause of primary ovarian insufficiency | ECE2021 | European Congress of Endocrinology 2021 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0073/ea0073aep597

  Triple-X syndrome (TXS) is a common (estimated incidence of 1/1000 women) but frequently undiagnosed chromosomal abnormality. […] Despite being idiopathic in 7490% of the cases, there are other etiologies, such as genetic causes (in up to 16% of cases). […] This patient did not show any phenotypic trait suggesting chromosomal aneuploidies and the reason for this might be due to the fact that only some cells presented this abnormality. […] Nevertheless, women with 47, XXX karyotype can be phenotypically normal.

• #42 Social functioning and emotion recognition in adults with triple X syndrome | BJPsych Open | Cambridge Core

  https://www.cambridge.org/core/journals/bjpsych-open/article/social-functioning-and-emotion-recognition-in-adults-with-triple-x-syndrome/6F6D47FAB84EFD9E9771FDA8E06FFA1B

  Triple X syndrome (TXS) is caused by aneuploidy of the X chromosome and is associated with impaired social functioning in children; however, its effect on social functioning and emotion recognition in adults is poorly understood. […] Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women. […] TXS has also been associated with impaired social functioning, a key characteristic in several neurodevelopmental, psychiatric and neurological disorders. The biological mechanisms underlying impaired social functioning are currently unknown; however, a growing body of evidence suggests that the sex chromosomes may play a role via haploinsufficiency, differences in the spatial organisation of chromosomes in the nucleus, or an increased dosage of X-linked and/or autosomal genes.

• #43 Social functioning and emotion recognition in adults with triple X syndrome | BJPsych Open | Cambridge Core

  https://www.cambridge.org/core/journals/bjpsych-open/article/social-functioning-and-emotion-recognition-in-adults-with-triple-x-syndrome/6F6D47FAB84EFD9E9771FDA8E06FFA1B

  Therefore, sex chromosome disorders, such as TXS, may serve as valuable genetic models for studying impaired social functioning in ASD. […] The social impairments associated with TXS may be, in part, attributable to a delay in the development of speech and/or language, as well as impaired cognitive processes such as attention and executive functioning, two cognitive domains that have been associated with ASD. However, little is currently known regarding social cognition in adults with TXS. […] Although impaired emotion recognition has been reported in other sex chromosome disorders, including Klinefelter and Turner syndrome, to date no studies have examined emotion recognition in adults with TXS. […] Our results indicate that adults with TXS have impaired social functioning and emotion recognition. Thus, the role of X chromosome aneuploidy in this social impairment should be examined to explain the variability in phenotypic presentation.

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

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

  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. […] The association between trisomy X in the offspring and maternal age is not as strong as in trisomy 21. […] Data from unbiased studies on development until adulthood became available in 1990, almost 15 years after the first reports on genetic counselling in SCA. […] The youngest cases seem to suffer from a delay in language development. […] Auditory-processing disorders may be responsible for this delay. […] Clear endocrine disorders have been found in adolescent Klinefelter boys and testosterone therapy has been accepted. […] In triple X syndrome, endocrinological findings from the newborn-screening study are not available.

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

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

  Several studies have described psychiatric disorders in adults. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women. […] The process of X chromosome inactivation in trisomy X and other scientific issues require further study.

• #46 Triple X syndrome: a review of the literature – PubMed

  https://pubmed.ncbi.nlm.nih.gov/19568271/

  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. […] 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. […] In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. […] 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.

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

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

  The newborn-screening studies did not involve EEG recordings. […] Olanders reported in his case series some form of paroxysmal abnormality in 13/21 cases, in four cases after photic stimulation. […] A common finding was a low-frequency background. […] His literature review showed that paroxysmal activity or increased photosensitivity occurred in 13/48 cases. […] These results were comparable with those found in Klinefelter syndrome. […] Other authors suggested that EEG anomalies in triple X syndrome are associated with mental retardation. […] Treatment with carbamazepine was effective in all but one case. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women. […] The process of X chromosome inactivation in trisomy X and other scientific issues require further study.

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