Deletion in chromosome region 22q11 in a child with CHARGE association

Clin Genet. 1998 May;53(5):408-10. doi: 10.1111/j.1399-0004.1998.tb02755.x.


We present a female child with features of the CHARGE association, including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. A submicroscopic deletion in chromsome 22q11 was detected by means of fluorescence in situ hybridization (FISH) using probe DO832. The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion-duplication.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Craniofacial Abnormalities / genetics
  • Ear / abnormalities
  • Eye Abnormalities / genetics
  • Female
  • Growth Disorders / genetics
  • Heart Defects, Congenital / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping