Trisomy 13 (Patau syndrome) with an 11-year survival

Clin Genet. 1993 Jan;43(1):46-50. doi: 10.1111/j.1399-0004.1993.tb04426.x.

Abstract

Trisomy 13 is very rare in live-born children. Only a small number of these children survive the first year and very few cases are reported to live longer. Survival time depends partly on the cytogenetic findings--full trisomy 13 or trisomy 13 mosaicism--and partly on the existence of serious somatic malformations. We report on a 11-year-old girl with full trisomy 13. In this case, missing cerebral and cardiovascular malformations probably allowed the long survival.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Brain / diagnostic imaging
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 13*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Limb Deformities, Congenital
  • Male
  • Microcephaly / genetics
  • Scalp / abnormalities
  • Syndrome
  • Tomography, X-Ray Computed
  • Trisomy*