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.

Some Recent Findings

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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

Additional Images

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  Chromosome unbalanced translocation

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  Chromosome balanced translocation

References

Search Pubmed

Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)

Search Pubmed: Trisomy 13 | Patau Syndrome

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

• NSW Centre for Genetics Education Fact Sheet - Trisomy 13

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Cite this page: Hill, M.A. (2024, May 4) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G