A prospective cytogenetic study of 36 cases of DiGeorge syndrome

Am J Hum Genet. 1992 Nov;51(5):957-63.


Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / genetics*
  • Female
  • Humans
  • Male
  • Monosomy*
  • Prospective Studies