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trisomy 13

Epidemiology: 1 in 15,000 live births Pathology: 1) ventricular septal defect 2) patent ductus arteriosus 3) double outlet right ventricle 4) single midline intracerebral ventricle Genetics: trisomy 13 Clinical manifestations: 1) midfacial defects 2) polydactyly 3) nail changes 4) mental retardation 5) median age of survival is 13 days [3] 6) 10-13% survive to age 10 years [3] Laboratory: - amniocentesis with genetic karyotyping (fetal chromosome 13 trisomy) Management: - 1-year survival 82% among patients undergoing surgery [3]

Related

fetal chromosome 13 trisomy

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  3. Nelson KE et al. Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016 Jul 26; 316:420. PMID: 27458947 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 PMID: 27458943 http://jama.jamanetwork.com/article.aspx?articleid=2536606