Tissue-specific mosaicism for trisomy 21 and congenital heart disease

J Pediatr. 1992 Jul;121(1):80-2. doi: 10.1016/s0022-3476(05)82547-8.

Abstract

Cytogenetic studies in a girl with ventricular septal defect and mosaicism for trisomy 21 showed that trisomy was present in most cells from the myocardium and lung but in only a minority from the skin and lymphocytes. These findings emphasize the importance of tissue-specific mosaicism as a cause of certain cardiovascular diseases.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 21
  • Cytogenetics
  • Down Syndrome / genetics*
  • Ductus Arteriosus, Patent / genetics*
  • Female
  • Heart Septal Defects, Ventricular / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Lung / pathology
  • Mosaicism*
  • Myocardium / pathology
  • Polymorphism, Genetic / genetics
  • Skin / pathology