Materiały źródłowe

• #1 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] The cause of Patau syndrome is the presence of three copies of chromosome 13; this is due most commonly to nondisjunction in meiosis, occurring more frequently in mothers of advanced age (age greater than 35). […] An extra copy of chromosome 13 causes the defects in Patau syndrome. Advanced maternal age is a risk factor for this pathology because of the increased frequency of nondisjunction in meiosis. […] This extra copy of chromosome 13 disrupts normal embryonic development and leads to multiple defects.

• #2 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 (Patau syndrome) is a rare genetic condition that occurs when the 13th chromosome appears three times (trisomy) instead of two times in a persons DNA. Trisomy 13 affects the development of the face, brain and heart, along with physical growth abnormalities throughout a childs body. Symptoms of trisomy 13 can be life-threatening and the condition poses a risk of miscarriage or death before the child turns 1 year old. […] A third chromosome 13 that attaches to a pair of chromosomes causes trisomy 13. A person with trisomy 13 has 47 total chromosomes. […] Random copying errors where more genetic material connects to a chromosome than necessary (complete trisomy 13) during the formation of the sperm and egg before conception causes trisomy 13. People with trisomy 13 have three copies of chromosome 13 instead of two. The extra genetic material attached to chromosome 13 causes symptoms of the condition.

• #3 Patau’s syndrome – Ambar Lab

  https://ambar-lab.com/en/pataus-syndrome/

  Patau syndrome is a genetic disease caused by the presence of a total trisomy (a whole chromosome) or partial trisomy of chromosome 13. […] Patau syndrome occurs when there is a third chromosome 13. The origin of this anomaly may be due to a defective separation of chromosomes in the formation of the eggs and sperm of the parents. […] Patau syndrome is caused by the existence of three copies of chromosome 13 in the karyotype. Hence, this genetic anomaly is also known as pair 13 trisomy.

• #4 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #5 Trisomy 13 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559091/

  Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. […] The embryological defects in trisomy 13 develop in the absence of fusion of prechordal mesoderm, which phenotypically presents as midline defects. These midline defects are associated with aberrant SHH genes. […] The meiotic nondisjunction in trisomy 13 causes a series of genetic aberrancies related to defects in prechordal mesoderm fusion. The faulty fusion causes midline defects, which develop into phenotypic malformations incompatible with life. […] Trisomy 13 results from the nondisjunction of homologous chromosomes during gametogenesis, characterized by three copies of chromosome 13 in somatic and germ cell lines. […] Maternal nondisjunction represents 91% of cases typically due to errors in meiosis I. Meiotic errors originate from the aberrant recombination of chromosomes, which has a greater incidence among conceptions in women older than 35 years of age. […] The current approach focuses on creating a communicative relationship between the parents and physicians informing them about the quality of life and the treatment options specific to their child’s abnormalities.

• #6 Trisomy 13: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-13/

  Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. […] Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. […] Trisomy 13 can also occur when chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. […] A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

• #7 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Patau syndrome, also known as trisomy 13, is a severe genetic disorder characterized by the presence of an extra chromosome 13 in each cell, leading to a total of 47 chromosomes instead of the typical 46. This condition arises primarily due to nondisjunction during the formation of egg or sperm cells, with advanced maternal age identified as a significant risk factor. […] The presence of an extra chromosome 13 in the cells of a developing fetus results from a type of error called nondisjunction, which can occur during (sperm or egg) production in either parent. Either the failure of chromosomes to separate from each other during the first meiotic division or the failure of sister chromatids to separate from each other during the second meiotic division will result in mature sperm cells or egg cells that have either one extra or one missing chromosome.

• #8 Patau Syndrome (Trisomy 13) | Concise Medical Knowledge

  https://www.lecturio.com/concepts/patau-syndrome-trisomy-13/

  Trisomy 13 from unbalanced Robertsonian translocation results in 2 copies of chromosome 13 and an extra copy of a segment of chromosome 13 due to translocation. […] Nondisjunction is the most common mechanism: 90% of cases. […] Nondisjunction results in aneuploidy, a state of chromosomal imbalance. […] Trisomy 13: All or a particular region of chromosome 13 is present 3 times (or has 3 copies). […] Nondisjunction results in aneuploidy, a state of chromosomal imbalance. […] Diagram explaining the etiological mechanism of nondisjunction in trisomies: An egg that carries 2 copies of the same chromosome acquires another when fertilized (resulting in 3 copies). […] Robertsonian translocation: The 2 long arms of different acrocentric chromosomes fuse, resulting in the loss of short arms and loss of 1 chromosome. […] The carrier of the translocation, though phenotypically unaffected, is at risk of having children with genetic abnormalities. […] Mosaicism: Not all cells are trisomic. […] Severity of the condition is dependent on the number and type of cells with trisomy 13.

• #9 Trisomy 13 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559091/

  Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. […] The embryological defects in trisomy 13 develop in the absence of fusion of prechordal mesoderm, which phenotypically presents as midline defects. These midline defects are associated with aberrant SHH genes. […] The meiotic nondisjunction in trisomy 13 causes a series of genetic aberrancies related to defects in prechordal mesoderm fusion. The faulty fusion causes midline defects, which develop into phenotypic malformations incompatible with life. […] Trisomy 13 results from the nondisjunction of homologous chromosomes during gametogenesis, characterized by three copies of chromosome 13 in somatic and germ cell lines. […] Maternal nondisjunction represents 91% of cases typically due to errors in meiosis I. Meiotic errors originate from the aberrant recombination of chromosomes, which has a greater incidence among conceptions in women older than 35 years of age. […] The current approach focuses on creating a communicative relationship between the parents and physicians informing them about the quality of life and the treatment options specific to their child’s abnormalities.

• #10

  https://link.springer.com/article/10.1007/BF00418400

  Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. The extra chromosome had originated in nondisjunction at the maternal first meiotic division in two patients, at the maternal second meiosis in other two, and at the paternal first meiosis in the remaining one. […] Summarizing the results of the present study, together with those of the previous studies on a liveborn and abortuses with trisomy 13, nondisjunction at the maternal and the paternal meiosis occurred in this trisomy in the ratio of 14:3. This ratio is not statistically different from that inferred from the previous studies for Down syndrome. These findings suggest that there may be a fundamental mechanism common to the occurrence of nondisjunction in the acrocentric trisomies.

• #11 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  Patau’s syndrome is a serious, rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. […] There’s an error when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby’s development in the womb. […] In most cases of Patau’s syndrome, a baby has a whole extra copy of chromosome number 13 in their body’s cells. This is sometimes known as trisomy 13 or simple trisomy 13. […] In some cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Patau’s syndrome that arises because of this can be inherited. […] Sometimes only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13). […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.

• #12 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome occurs when there is an extra copy of chromosome 13 in all or some cells. […] Patau syndrome, or trisomy 13, is a life-limiting genetic condition in which there is an extra copy of chromosome 13 in all or some cells. […] Patau syndrome occurs in 1 in 5,000 live births (though it should be noted that these figures will be confounded by the numbers of pregnancy terminations). It usually arises when each cell has three, rather than the usual two, copies of chromosome 13. […] Some individuals with Patau syndrome have three copies of chromosome 13 in some of their cells and two in the other cells. This is known as mosaic Patau syndrome. Individuals with mosaic Patau syndrome tend to have milder features. […] In up to 1 in 10 cases of Patau syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Features can vary depending on the level of mosaicism (the number of cells containing an extra copy of chromosome 13) and the tissues involved. This can be difficult to accurately determine, so the prognosis (though often milder) is more unpredictable.

• #13 Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

  https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-13-patau-syndrome-causes-symptoms-types-diagnosis-treatment-and-prevention

  The symptoms of a translocation, or the attachment of a segment of chromosome 13 to a nearby chromosome during foetal development, account for about 20% of cases of trisomy 13. […] An extra copy of chromosome 13 can sometimes arise in some, but not all, of the body’s cells. This shows that chromosome 13 is present in two (euploid) and three copies in some bodily cells. The degree of symptoms in a mosaic trisomy 13 diagnosis is based on the number of cells with the third copy of trisomy 13. The symptoms worsen in more cells that have a third copy.

• #14 PATAU SYNDROME (TRISOMY 13)

  https://medicover-genetics.com/product/patau-syndrome/

  Patau syndrome or trisomy 13 is a genetic condition in which cells in the body have 3 copies of chromosome 13 instead of 2. The condition arises when mistakes occur during cell division and fertilization when the egg or the sperm carries an additional copy of chromosome 13 and passes it on to the embryo. […] Patau syndrome is caused by an extra chromosome 13. In 75% of cases, the extra chromosome is in all cells of the body (called free trisomy 13), while mosaic trisomy (extra chromosome in some cells) is seen in 5%, and an unbalanced translocation (part of an extra chromosome in cells) is seen in 20%.

• #15 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #16 Trisomy 13/Patau Syndrome: Causes, Symptoms And Prevention Of this Genetic Disorder 

  https://www.netmeds.com/health-library/post/trisomy-13-patau-syndrome-causes-symptoms-and-prevention-of-this-genetic-disorder?srsltid=AfmBOoqBSsm4WpodBLmObCHGAmgTxBj8yNOPA8-ipjLqyJvwNTX3hZvE

  Patau syndrome/Trisomy 13 occurs when there is an additional copy of chromosome 13 in some or all of the body’s cells. […] The extra genetic material impedes the infants overall development, causing complex brain malformation and many other problems. […] It can also occur mistakenly during conception when the sperm and egg combine and the foetus start to grow. An error occurs when the cells divide, resulting in an additional copy of chromosome 13, which severely affects the baby’s development in the womb. […] Another cause of Patau Syndrome is when chromosome 13 becomes attached to another random chromosome during the very early foetal development stage. The affected infant will have two copies of chromosome 13, plus an extra copy of chromosome 13 that is clinging to the chromosome.

• #17 SciELO Brazil – Holoprosencephaly in Patau Syndrome Holoprosencephaly in Patau Syndrome

  https://www.scielo.br/j/rpp/a/LYDztQxy47QBXBZ3LNVTnvx/

  Patau syndrome is caused by the trisomy of chromosome 13. […] Holoprosencephaly (HPE), in turn, is a defect in the cleavage of the forebrain, occurring between the 18th and 28th week of gestation, caused by failures in the action of signaling molecules such as Hedgehog (Hh) protein precursor, fibroblast growth factor (FGF), transforming growth factor-beta (TGF) and WnT signaling pathway that regulate the transcription of genes responsible for neural plate differentiation. […] In fact, 24 to 45% of Patau syndrome cases are associated with HPE. […] HPE derives from the intense malformation of the forebrain in fetal development, causing non-separation of the cerebral hemispheres in the frontal lobe. […] However, the mechanism between these pathologies is not clearly elucidated, and a significant part of the cases are associated with HPE.

• #18 SciELO Brazil – Holoprosencephaly in Patau Syndrome Holoprosencephaly in Patau Syndrome

  https://www.scielo.br/j/rpp/a/LYDztQxy47QBXBZ3LNVTnvx/

  Patau syndrome is caused by the trisomy of chromosome 13. […] Holoprosencephaly (HPE), in turn, is a defect in the cleavage of the forebrain, occurring between the 18th and 28th week of gestation, caused by failures in the action of signaling molecules such as Hedgehog (Hh) protein precursor, fibroblast growth factor (FGF), transforming growth factor-beta (TGF) and WnT signaling pathway that regulate the transcription of genes responsible for neural plate differentiation. […] In fact, 24 to 45% of Patau syndrome cases are associated with HPE. […] HPE derives from the intense malformation of the forebrain in fetal development, causing non-separation of the cerebral hemispheres in the frontal lobe. […] However, the mechanism between these pathologies is not clearly elucidated, and a significant part of the cases are associated with HPE.

• #19 Patau Syndrome Mnemonic Video

  https://www.picmonic.com/pathways/medicine/courses/standard/biochemistry-182/trisomy-disorders-36068/patau-syndrome_147

  Patau syndrome, also called trisomy 13, is a genetic abnormality caused by an additional chromosome 13. The most common cause is nondisjunction of chromosome 13 during meiosis. The extra chromosome 13 disrupts normal development and as a result, many infants do not survive beyond the first few weeks of life. […] Patients also have renal defects including cystic kidneys and cardiac defects like ventricular septal defects. […] Holoprosencephaly is caused by a failure of the forebrain to divide properly into two hemispheres and is commonly observed in Patau syndrome. […] Renal defects including cystic kidneys are common in Patau syndrome. […] Ventricular septal defect is a congenital heart defect that enables blood to flow between the left and right ventricle. VSDs are common in children with Patau syndrome.

• #20 Fetopathology and developmental pathology of the embryo and fetus: Patau syndrome

  https://atlases.muni.cz/atlases/feto/atl_en/patau.html

  Full trisomy 13 is found in most cases. Translocation is present in 20% of the cases, mosaicism in less than 10%. […] The risk of having a child with trisomy 13 is increased with advanced maternal age. […] Prenatal wastage is high, up to 95% of trisomy 13 conceptuses are spontaneously aborted. […] Longer survival is associated with mosaicism and partial trisomy, these cases also show milder phenotype. […] Severe mental retardation. […] Characteristic triad: microphtalmia, cleft lip and palate, polydactyly. […] Various malformations are seen in 80% of the cases including ventricular septal defects, atrial septal defects, dextrocardia, pulmonary stenosis etc. […] CNS malformations: in approximately 50% of cases; arhinencephalyholoprosecephaly, corpus callosum agenesis, cerebellar anomalies neural tube defects. […] Ocular malformation: are seen in 90% of the cases: microphtalmy, coloboma, retinal dysplasia, cataracts. […] Urogenital: micromulticystic kidneys, cryptorchidism is constant in males, penis and scrotum are small, uterus bicornis is commonly seen in females.

• #21 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Phenotypes that arise from aneuploidy are thought to occur due to abnormal levels of gene expression involving genes of the duplicated chromosome. […] The following fetal developmental processes are thought to be disrupted during eye development in trisomy 13: Organogenesis (third-fourth weeks): optic pit changes into the optic vesicle […] End of fourth week: lens pit and vesicle appear, optic vesicle invaginates to form optic cup […] Sixth week: fetal fissures close; lens separates from surface and primary fibers form, retinal differentiation begins, tunica vasculosa begins […] Seventh-ninth weeks: secondary lens fibers form, secondary vitreous forms, neural crest cells grow into the anterior segment […] Tenth-twelfth weeks: secondary lens fibers progress, development of ectodermal layers of iris and ciliary body begins.

• #22 Trisomy 13 (also known as Patau syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy13.html

  Trisomy 13, also called Patau syndrome, is a severe chromosomal condition, with multiple malformations due to an additional copy of all or part of chromosome 13. The cause of this additional copy of chromosome 13 is unknown. […] Most cases are not inherited and result from random formation of eggs and sperm in healthy parents. […] The type of heart defect varies, but most often would be a ventricular septal defect (opening between the lower heart chambers), an atrial septal defect (opening between the upper heart chambers), a patent ductus arteriosus (a blood vessel from fetal life that does not close), or dextrocardia, which is a location of the heart on the right side of the chest instead of the left side. […] The list of possible complications is very great because so many body systems are affected with the trisomy 13 condition.

• #23 Trisomy 13 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-13

  Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. […] Approximately 80% of cases have severe congenital cardiovascular anomalies; dextrocardia is common. […] The underlying genetic abnormality cannot be cured.

• #24 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/P/Patau-Syndrome.html

  In nearly all cases, Patau syndrome affected infants have respiratory difficulties and heart defects, including atrial and ventricular septal defects (holes between chambers of the heart); malformed ducts that cause abnormal direction of blood flow (patent ductus arteriosus); holes in the valves of the lungs and the heart (pulmonary and aortic valves); and misplacement of the heart in the right, rather than the left, side of the chest (dextrocardia). […] Partial trisomy of the distal segment of chromosome 13 results in generally less severe, but still serious, symptoms and a distinctive facial appearance including a short upturned nose, a longer than usual area between the nose and upper lip (philtrum), bushy eyebrows, and tumors made up of blood capillaries on the forehead (frontal capillary hemangiomata). […] Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.

• #25 Patau Syndrome Mnemonic Video

  https://www.picmonic.com/pathways/medicine/courses/standard/biochemistry-182/trisomy-disorders-36068/patau-syndrome_147

  Patau syndrome, also called trisomy 13, is a genetic abnormality caused by an additional chromosome 13. The most common cause is nondisjunction of chromosome 13 during meiosis. The extra chromosome 13 disrupts normal development and as a result, many infants do not survive beyond the first few weeks of life. […] Patients also have renal defects including cystic kidneys and cardiac defects like ventricular septal defects. […] Holoprosencephaly is caused by a failure of the forebrain to divide properly into two hemispheres and is commonly observed in Patau syndrome. […] Renal defects including cystic kidneys are common in Patau syndrome. […] Ventricular septal defect is a congenital heart defect that enables blood to flow between the left and right ventricle. VSDs are common in children with Patau syndrome.

• #26 Fetopathology and developmental pathology of the embryo and fetus: Patau syndrome

  https://atlases.muni.cz/atlases/feto/atl_en/patau.html

  Full trisomy 13 is found in most cases. Translocation is present in 20% of the cases, mosaicism in less than 10%. […] The risk of having a child with trisomy 13 is increased with advanced maternal age. […] Prenatal wastage is high, up to 95% of trisomy 13 conceptuses are spontaneously aborted. […] Longer survival is associated with mosaicism and partial trisomy, these cases also show milder phenotype. […] Severe mental retardation. […] Characteristic triad: microphtalmia, cleft lip and palate, polydactyly. […] Various malformations are seen in 80% of the cases including ventricular septal defects, atrial septal defects, dextrocardia, pulmonary stenosis etc. […] CNS malformations: in approximately 50% of cases; arhinencephalyholoprosecephaly, corpus callosum agenesis, cerebellar anomalies neural tube defects. […] Ocular malformation: are seen in 90% of the cases: microphtalmy, coloboma, retinal dysplasia, cataracts. […] Urogenital: micromulticystic kidneys, cryptorchidism is constant in males, penis and scrotum are small, uterus bicornis is commonly seen in females.

• #27

  https://link.springer.com/article/10.1007/BF00273650

  Anatomical and histopathological findings in 12 cases of trisomy 13 syndrome (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13/13 translocation) are reported. […] Emphasis is on the brain defects, cardiovascular anomalies, and histological organ dysplasia. […] Histological abnormalities giving evidence of organ dysplasia were observed in the central nervous system, eyes, pancreas, kidneys, and ovaries. […] The pancreatic dysplasia appears to be pathognomonic for trisomy 13. […] These observations illustrate the importance of pathological studies in the recognition of chromosome abnormalities and, more specifically, of trisomy 13 syndrome. […] Based on autopsy data, trisomy 13 can be diagnosed or ruled out with certainty, even in the absence of karyotyping.

• #28 Fetopathology and developmental pathology of the embryo and fetus: Patau syndrome

  https://atlases.muni.cz/atlases/feto/atl_en/patau.html

  Full trisomy 13 is found in most cases. Translocation is present in 20% of the cases, mosaicism in less than 10%. […] The risk of having a child with trisomy 13 is increased with advanced maternal age. […] Prenatal wastage is high, up to 95% of trisomy 13 conceptuses are spontaneously aborted. […] Longer survival is associated with mosaicism and partial trisomy, these cases also show milder phenotype. […] Severe mental retardation. […] Characteristic triad: microphtalmia, cleft lip and palate, polydactyly. […] Various malformations are seen in 80% of the cases including ventricular septal defects, atrial septal defects, dextrocardia, pulmonary stenosis etc. […] CNS malformations: in approximately 50% of cases; arhinencephalyholoprosecephaly, corpus callosum agenesis, cerebellar anomalies neural tube defects. […] Ocular malformation: are seen in 90% of the cases: microphtalmy, coloboma, retinal dysplasia, cataracts. […] Urogenital: micromulticystic kidneys, cryptorchidism is constant in males, penis and scrotum are small, uterus bicornis is commonly seen in females.

• #29 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Phenotypes that arise from aneuploidy are thought to occur due to abnormal levels of gene expression involving genes of the duplicated chromosome. […] The following fetal developmental processes are thought to be disrupted during eye development in trisomy 13: Organogenesis (third-fourth weeks): optic pit changes into the optic vesicle […] End of fourth week: lens pit and vesicle appear, optic vesicle invaginates to form optic cup […] Sixth week: fetal fissures close; lens separates from surface and primary fibers form, retinal differentiation begins, tunica vasculosa begins […] Seventh-ninth weeks: secondary lens fibers form, secondary vitreous forms, neural crest cells grow into the anterior segment […] Tenth-twelfth weeks: secondary lens fibers progress, development of ectodermal layers of iris and ciliary body begins.

• #30 Trisomy 13 – EyeWiki

  https://eyewiki.org/Trisomy_13

  Phenotypes that arise from aneuploidy are thought to occur due to abnormal levels of gene expression involving genes of the duplicated chromosome. […] The following fetal developmental processes are thought to be disrupted during eye development in trisomy 13: Organogenesis (third-fourth weeks): optic pit changes into the optic vesicle […] End of fourth week: lens pit and vesicle appear, optic vesicle invaginates to form optic cup […] Sixth week: fetal fissures close; lens separates from surface and primary fibers form, retinal differentiation begins, tunica vasculosa begins […] Seventh-ninth weeks: secondary lens fibers form, secondary vitreous forms, neural crest cells grow into the anterior segment […] Tenth-twelfth weeks: secondary lens fibers progress, development of ectodermal layers of iris and ciliary body begins.

• #31

  https://link.springer.com/article/10.1007/BF00273650

  Anatomical and histopathological findings in 12 cases of trisomy 13 syndrome (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13/13 translocation) are reported. […] Emphasis is on the brain defects, cardiovascular anomalies, and histological organ dysplasia. […] Histological abnormalities giving evidence of organ dysplasia were observed in the central nervous system, eyes, pancreas, kidneys, and ovaries. […] The pancreatic dysplasia appears to be pathognomonic for trisomy 13. […] These observations illustrate the importance of pathological studies in the recognition of chromosome abnormalities and, more specifically, of trisomy 13 syndrome. […] Based on autopsy data, trisomy 13 can be diagnosed or ruled out with certainty, even in the absence of karyotyping.

• #32 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] The cause of Patau syndrome is the presence of three copies of chromosome 13; this is due most commonly to nondisjunction in meiosis, occurring more frequently in mothers of advanced age (age greater than 35). […] An extra copy of chromosome 13 causes the defects in Patau syndrome. Advanced maternal age is a risk factor for this pathology because of the increased frequency of nondisjunction in meiosis. […] This extra copy of chromosome 13 disrupts normal embryonic development and leads to multiple defects.

• #33 Azthena logo with the word Azthena

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

  Pataus Syndrome is also known as Trisomy 13. It is a chromosome-based, rare genetic disorder in which the patient has an extra copy of chromosome 13 in some or all of the cells in the body. […] The extra copy of chromosome 13 is generated by random events. The formation of the eggs or sperm may show translocation of this chromosome which causes trisomy 13. This is a condition that may be inherited or may occur randomly during conception. There is nothing that the parents can do to avoid this abnormal development. […] Statistically speaking, the older the woman is at the time of conception, the more likely there is to be a genetic problem with the fetus. This is why women are advised to conceive before they reach the age of thirty. The condition of their eggs is not as robust as they age.

• #34 Patau Syndrome – Trisomy 13 (Chapter 44) – Perinatal Neuropathology

  https://www.cambridge.org/core/books/perinatal-neuropathology/patau-syndrome-trisomy-13/6311226D9D688DA49BC8E3CDF8E9DC78

  Patau syndrome (PS) or trisomy 13 is a chromosomal disorder caused by the presence of an extra copy of chromosome 13 in some or all cells. […] Older maternal age is a recognized risk factor for this pathology due to the higher frequency of nondisjunction in meiosis leading to trisomy 13 compared to younger mothers.

• #35 Trisomy 13: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-13/

  Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. […] Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome.

• #36 Patau_syndrome

  https://www.bionity.com/en/encyclopedia/Patau_syndrome.html

  Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body’s cells. […] Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. As a result, some of the body’s cells have the usual two copies of chromosome 13, and other cells have three copies of the chromosome. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

• #37 Patau Syndrome | The BMJ

  https://www.bmj.com/rapid-response/2011/10/31/patau-syndrome

  Patau Syndrome is the least common and the most severe of the autosomal trisomies. Survival is less than 3 days. Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Median survival age for children with Patau syndrome is 2.5 days, with only 1 child in 20 surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected. […] Prognosis: Quite poor, median survival is only 2.5 days, 82% die within 1 month, and 95% die within 6 months.

• #38

  https://step1.medbullets.com/biochemistry/422911/patau-syndrome

  Patau syndrome is an autosomal trisomy disorder of chromosome 13 characterized by severe intellectual disability and characteristic facial features, including cleft lip/palate, microcephaly, and microphthalmia. […] Trisomy of chromosome 13 is the genetic basis of Patau syndrome. […] More rarely, Patau syndrome can be due to partial trisomy of chromosome 13 or translocation. […] Many instances of Patau syndrome result in fetal demise. […] Patients die by age 1 with a median survival of 3 days. […] The most common cause of death is cardiopulmonary arrest. […] Holoprosencephaly is a brain malformation associated with severe neurological dysfunction in Patau syndrome. […] Cardiac anomalies, such as patent ductus arteriosus and septal wall defects, are common in patients with Patau syndrome. […] There is no cure for Patau syndrome, and surgical options are typically deferred for the first few months of life due to a high risk of mortality in that period.

• #39 Patau Syndrome | The BMJ

  https://www.bmj.com/rapid-response/2011/10/31/patau-syndrome

  Patau Syndrome is the least common and the most severe of the autosomal trisomies. Survival is less than 3 days. Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Median survival age for children with Patau syndrome is 2.5 days, with only 1 child in 20 surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected. […] Prognosis: Quite poor, median survival is only 2.5 days, 82% die within 1 month, and 95% die within 6 months.

• #40

  https://step1.medbullets.com/biochemistry/422911/patau-syndrome

  Patau syndrome is an autosomal trisomy disorder of chromosome 13 characterized by severe intellectual disability and characteristic facial features, including cleft lip/palate, microcephaly, and microphthalmia. […] Trisomy of chromosome 13 is the genetic basis of Patau syndrome. […] More rarely, Patau syndrome can be due to partial trisomy of chromosome 13 or translocation. […] Many instances of Patau syndrome result in fetal demise. […] Patients die by age 1 with a median survival of 3 days. […] The most common cause of death is cardiopulmonary arrest. […] Holoprosencephaly is a brain malformation associated with severe neurological dysfunction in Patau syndrome. […] Cardiac anomalies, such as patent ductus arteriosus and septal wall defects, are common in patients with Patau syndrome. […] There is no cure for Patau syndrome, and surgical options are typically deferred for the first few months of life due to a high risk of mortality in that period.

• #41 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  Patau’s syndrome is a serious, rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. […] There’s an error when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby’s development in the womb. […] In most cases of Patau’s syndrome, a baby has a whole extra copy of chromosome number 13 in their body’s cells. This is sometimes known as trisomy 13 or simple trisomy 13. […] In some cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Patau’s syndrome that arises because of this can be inherited. […] Sometimes only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13). […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.

• #42

  https://www.gov.uk/government/publications/trisomy-13-description-in-brief/pataus-syndrome-information-for-parents

  Babies with Pataus syndrome have an extra copy of chromosome 13 in all or some cells. […] We do not know exactly what causes Pataus syndrome. It is not caused by something you have or have not done. […] Pataus syndrome happens in about one baby out of every 4,000 (0.03%). […] There is no cure for Pataus syndrome. […] Sadly, many babies with Pataus Syndrome are miscarried during pregnancy. […] The life expectancy for babies born with mosaic or partial types of Pataus syndrome can be much more variable. […] Babies with Pataus syndrome are likely to need specialist care and treatment after they are born. This will focus on the symptoms of the condition that they have.

• #43 SSA – POMS: DI 23022.480 – Patau Syndrome (Trisomy 13) – 08/28/2020

  https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022480

  Patau syndrome is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body. […] The syndrome involves multiple abnormalities, many of which are not compatible with life. Due to the presence of several life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive.

• #44 Trisomy 13 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-13

  Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. […] Approximately 80% of cases have severe congenital cardiovascular anomalies; dextrocardia is common. […] The underlying genetic abnormality cannot be cured.

• #45

  https://www.gov.uk/government/publications/trisomy-13-description-in-brief/pataus-syndrome-information-for-parents

  Babies with Pataus syndrome have an extra copy of chromosome 13 in all or some cells. […] We do not know exactly what causes Pataus syndrome. It is not caused by something you have or have not done. […] Pataus syndrome happens in about one baby out of every 4,000 (0.03%). […] There is no cure for Pataus syndrome. […] Sadly, many babies with Pataus Syndrome are miscarried during pregnancy. […] The life expectancy for babies born with mosaic or partial types of Pataus syndrome can be much more variable. […] Babies with Pataus syndrome are likely to need specialist care and treatment after they are born. This will focus on the symptoms of the condition that they have.

• #46 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/page/41,0,285,980.html

  Treatment may include surgical procedures, depending upon the nature and severity of the abnormalities and associated symptoms as well as the joint decision of families and medical professionals. […] Children with Trisomy 13 who are less medically fragile may receive more developmental services including physical therapy, medical, and social services to maximize their functioning and provide the best quality of life possible.

• #47 The Genetic Mechanisms and Therapeutic Interventions of Patau Syn

  https://www.longdom.org/open-access/the-genetic-mechanisms-and-therapeutic-interventions-of-patau-syndrome-a-chromosomal-syndrome-105847.html

  There is no cure for Patau syndrome, and treatment is focused on managing the individual symptoms and providing supportive care. This may involve surgeries to correct physical abnormalities, interventions to address cardiac or renal issues, and early intervention programs to support developmental delays. A multidisciplinary approach involving medical professionals, therapists, and educators is essential to provide comprehensive care. […] Research into understanding the underlying genetic mechanisms and potential therapeutic interventions continues, offering hope for improved outcomes in the future.

• #48

  https://step1.medbullets.com/biochemistry/422911/patau-syndrome

  Patau syndrome is an autosomal trisomy disorder of chromosome 13 characterized by severe intellectual disability and characteristic facial features, including cleft lip/palate, microcephaly, and microphthalmia. […] Trisomy of chromosome 13 is the genetic basis of Patau syndrome. […] More rarely, Patau syndrome can be due to partial trisomy of chromosome 13 or translocation. […] Many instances of Patau syndrome result in fetal demise. […] Patients die by age 1 with a median survival of 3 days. […] The most common cause of death is cardiopulmonary arrest. […] Holoprosencephaly is a brain malformation associated with severe neurological dysfunction in Patau syndrome. […] Cardiac anomalies, such as patent ductus arteriosus and septal wall defects, are common in patients with Patau syndrome. […] There is no cure for Patau syndrome, and surgical options are typically deferred for the first few months of life due to a high risk of mortality in that period.

• #49 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/page/41,0,285,980.html

  Treatment may include surgical procedures, depending upon the nature and severity of the abnormalities and associated symptoms as well as the joint decision of families and medical professionals. […] Children with Trisomy 13 who are less medically fragile may receive more developmental services including physical therapy, medical, and social services to maximize their functioning and provide the best quality of life possible.

• #50 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/msdhsite/index.cfm/41,23433,285,980,html

  Trisomy 13, known as Patau Syndrome, is a rare condition resulting from genetic errors on the 13th chromosome. […] Trisomy 13 occurs when children have three copies of chromosome 13 instead of two. […] Children with Trisomy 13 often have craniofacial defects such as cleft lip and palate, congenital heart defects, and abnormalities of the brain and spinal cord. […] In addition, children with Trisomy 13 experience significant developmental and intellectual disabilities. […] Infants with Trisomy 13 are unusually small and have feeding difficulties which affect growth and development. […] Although there is no cure for Trisomy 13, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family. […] Treatment may include surgical procedures, depending upon the nature and severity of the abnormalities and associated symptoms as well as the joint decision of families and medical professionals. […] Children with Trisomy 13 who are less medically fragile may receive more developmental services including physical therapy, medical, and social services to maximize their functioning and provide the best quality of life possible.

• #51 What Is Trisomy 13 (Patau Syndrome)? – Consensus: AI Search Engine for Research

  https://consensus.app/home/blog/what-is-trisomy-13-patau-syndrome/

  Trisomy 13, also known as Patau Syndrome, is a genetic disorder caused by the presence of an extra chromosome 13 in a persons cells. […] Trisomy 13 occurs due to nondisjunction during meiosis, which results in an embryo with three copies of chromosome 13 instead of the usual two. This extra genetic material interferes with normal development, causing the symptoms associated with the syndrome. […] The condition is not typically inherited but occurs as a random event during the formation of reproductive cells.

• #52 Trisomy 13 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559091/

  Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. […] The embryological defects in trisomy 13 develop in the absence of fusion of prechordal mesoderm, which phenotypically presents as midline defects. These midline defects are associated with aberrant SHH genes. […] The meiotic nondisjunction in trisomy 13 causes a series of genetic aberrancies related to defects in prechordal mesoderm fusion. The faulty fusion causes midline defects, which develop into phenotypic malformations incompatible with life. […] Trisomy 13 results from the nondisjunction of homologous chromosomes during gametogenesis, characterized by three copies of chromosome 13 in somatic and germ cell lines. […] Maternal nondisjunction represents 91% of cases typically due to errors in meiosis I. Meiotic errors originate from the aberrant recombination of chromosomes, which has a greater incidence among conceptions in women older than 35 years of age. […] The current approach focuses on creating a communicative relationship between the parents and physicians informing them about the quality of life and the treatment options specific to their child’s abnormalities.

• #53 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #54 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #55 SciELO Brazil – Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

  https://www.scielo.br/j/acrep/a/HtbZMjxkS4BPPzjtLwHWT6k/

  Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. […] Large structural genetic rearrangements such as aneuploidies lead to a complex chain of events during organogenesis, which still needs to be elucidated entirely more than 60 years after describing the Patau syndrome as a consequence of an extra numerary chromosome 13. […] This report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders. […] The pathophysiology underlying this variation remains not fully understood. […] This report supports the evidence that T13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.

• #56 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

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