Three cases of trisomy 13 mosaicism and a review of the literature

Clin Genet. 1997 Jun;51(6):403-7. doi: 10.1111/j.1399-0004.1997.tb02499.x.

Abstract

We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Amniocentesis
  • Body Weight / genetics
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 13*
  • Developmental Disabilities / genetics
  • Ductus Arteriosus, Patent / genetics
  • Ductus Arteriosus, Patent / surgery
  • Eye Abnormalities / genetics
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Mosaicism*
  • Pregnancy
  • Trisomy*