Full trisomy 22 in a malformed newborn female

Ann Genet. 1991;34(1):44-6.

Abstract

The authors describe a new case of full trisomy 22 in a malformed newborn female, who died shortly after birth. Pathologic findings include cardiac, vascular, renal, gastrointestinal, genital and cerebral malformations. The study of C-heteromorphisms shows a paternal origin of the aneuploidy (non-disjunction at meiosis II).

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 22*
  • Female
  • Fetal Growth Retardation / genetics
  • Humans
  • Infant, Newborn
  • Phenotype
  • Trisomy*
  • Viscera / abnormalities