Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

Am J Med Genet. 1996 Mar 29;62(3):274-5. doi: 10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H.


This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in this child is not usually seen in VCF syndrome. Opitz syndrome maps to at least two loci, one on Xp, the other on 22q11.2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Humans
  • Infant
  • Male
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Smith-Lemli-Opitz Syndrome / physiopathology