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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. Individuals with trisomy 13 often have heart defects, brain or spinal cord ...
- ... region are involved. More About This Health Condition Trisomy 13 occurs when each cell in the body has ... chromosome 13 instead of the usual two copies. Trisomy 13 can also result from an extra copy of ...
- ... on PubMed Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, ... Cardiac Care Consortium. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). ...
- ... 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also ...
- ... trisomy 18 (caused by an extra chromosome 18 ), trisomy 13 (caused by an extra chromosome 13 ), and extra or missing copies of the X chromosome and Y chromosome (the sex ... a trisomy condition (positive test result). A positive screening result ...
- ... UKCCG). Oncogene. 2000 Aug 10;19(34):3902-13. doi: 10.1038/sj.onc.1203728. Citation on PubMed Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C. Trisomy 20q caused by interstitial duplication 20q13.2: clinical ...
- ... relatively small number of genes. These include 19p13.13 deletions (described above) and small deletions in other regions of the chromosome. Other possible changes include the presence of an extra piece of the chromosome in each cell (partial trisomy 19) or the absence of a larger segment ...
- ... and discordant bone age in a patient with trisomy 8 mosaicism. Am J Med Genet A. ... ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18( ...
- ... Vekemans M, Romana SP. Molecular characterization of partial trisomy 16q24.1-qter: ... Jul 1;14(13):1553-77. No abstract available. Citation on PubMed ...
- ... G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 ... Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. doi: 10.1002/mrdd.20157. ...