Trisomy 13: Difference between revisions

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==Introduction==
==Introduction==


Trisomy 13 (Patau syndrome) is a rare (1 in 10,000 newborns) developmental genetic abnormality 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.


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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: [http://embryology.med.unsw.edu.au/Defect/genetic.htm Original page - Genetic Abnormalities]
 
== References ==
 
 
 
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[[Category:Abnormal Development]] [[Category:Genetic Abnormalities]] [[Category:Human Embryo]] [[Category:Human Fetus]]
[[Category:Abnormal Development]] [[Category:Genetic Abnormalities]] [[Category:Human Embryo]] [[Category:Human Fetus]]

Revision as of 10:51, 13 May 2010

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.



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

References

Glossary Links

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Cite this page: Hill, M.A. (2024, June 27) 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