Trisomy 13 (Patau's syndrome): a rare case of survival into adulthood

J Ment Defic Res. 1990 Feb:34 ( Pt 1):91-3. doi: 10.1111/j.1365-2788.1990.tb01520.x.

Abstract

Survival of cases of trisomy 13 (Patau's syndrome) into adulthood is a rare phenomenon. The purpose of this paper is to report one such survivor who has had the typical clinical features of trisomy 13 confirmed by chromosome analysis of both blood and skin, and to speculate on some of the factors that may have contributed to his unusually long survival.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosomes, Human, Pair 13*
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Syndrome
  • Trisomy*