Trisomy 22 confirmed by fluorescent in situ hybridization

Am J Med Genet. 1993 Apr 1;46(1):109-12. doi: 10.1002/ajmg.1320460119.

Abstract

We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 22*
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Ear, External / abnormalities
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Tetralogy of Fallot / genetics
  • Trisomy*