Trisomy 13
Introduction
Trisomy 13 (Patau syndrome) is a rare (1 in 10,000 newborns) developmental genetic abnormality (aneuploidy) with three copies of chromosome 13, instead of the usual two copies, there can also be a chromosomal translocation. Infant may have a single placental artery at birth.
Both trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth.[1]
Patau syndrome is named after Klaus Pätau (1908–1975) an American geneticist who in 1960[2] was the first to attribute the syndrome of trisomy to chromosome 13.
Some Recent Findings
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Aneuploidy
- Euploidy normal, means having the complete chromosome sets (n, 2n, 3n). Aneuploidy is one of the three main classes of numerical chromosomal abnormalities:
- Aneuploidy are chromosome mutations in which chromosome number is abnormal (increased or reduced), nondisjunction in meiosis or mitosis (anaphase of meiosis I, sister chromatids fail to disjoin at either meiosis II or at mitosis) is the cause of most aneuploids.
- Polyploidy includes triploidy, usually due to two sperm fertilizing a single egg.
- Mixoploidy includes mosaicism, where there are two or more genetically different cell lines in an individual.
Cardiac Abnormalities
- Atrial septal defect
- Patent ductus arteriosus
- Ventricular septal defect
A recent study of Japanese cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan[5]
- clinical data from 134 patients with T18 and 27 patients with T13
- patients with T13, 5 (19%) of 27 patients were alive during study period.
- Twenty-three (85%) of 27 patients had CHD and 13 (57%) of 27 patients had PH.
- Atrial septal defect was the most common form of CHD (22%).
- Cardiac surgery was done in 6 (26%) of 23 patients.
Cyclopedia Abnormality
Digit Abnormality
Additional Images
References
Reviews
<pubmed>20466287</pubmed> <pubmed>20104610</pubmed> <pubmed>17290444</pubmed> <pubmed>15690377</pubmed> <pubmed>15503716</pubmed> <pubmed>11981910</pubmed> <pubmed>2202219</pubmed> <pubmed>3325020</pubmed>
Articles
<pubmed>21990236</pubmed> <pubmed>18088410</pubmed>| Diagn Pathol.
Search Pubmed
Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)
Search Pubmed: Trisomy 13 | Patau Syndrome
External Links
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- NSW Centre for Genetics Education Fact Sheet - Trisomy 13
- PubMed Health Trisomy 13
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Cite this page: Hill, M.A. (2024, June 20) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G