trisomy 13
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Epidemiology
1 in 15,000 live births
Pathology
- ventricular septal defect
- patent ductus arteriosus
- double outlet right ventricle
- single midline intracerebral ventricle
Genetics
trisomy 13
Clinical manifestations
- midfacial defects
- polydactyly
- nail changes
- mental retardation
- median age of survival is 13 days[3]
- 10-13% survive to age 10 years[3]
Laboratory
- amniocentesis with genetic karyotyping (fetal chromosome 13 trisomy)
Management
More general terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- ↑ 3.0 3.1 3.2 3.3 Nelson KE et al. Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016 Jul 26; 316:420. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27458947 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=2536636
Lantos JD. Trisomy 13 and 18 - treatment decisions in a stable gray zone. JAMA 2016 Jul 26; 316:396 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27458943 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=2536606