Trisomy 13: Difference between revisions
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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. | 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. | ||
Both trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth.22492767 | |||
== Some Recent Findings == | == Some Recent Findings == |
Revision as of 21:14, 6 May 2012
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.
Both trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth.22492767
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.
Links: Original page - Genetic Abnormalities
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References
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Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)
Search Pubmed: Trisomy 13 | Patau Syndrome
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- NSW Centre for Genetics Education Fact Sheet - Trisomy 13
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Cite this page: Hill, M.A. (2024, June 16) 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