A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

Am J Med Genet A. 2007 Dec 15;143A(24):3302-8. doi: 10.1002/ajmg.a.32025.


Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q11.2 and chromosomal arrangements are frequently complex and could inactivate such a locus, we performed high-resolution array-based comparative genomic hybridization (CGH) on a new Opitz syndrome-like phenotype patient with a 22q11.2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes / ultrastructure
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / genetics*
  • Diagnosis, Differential
  • Facies
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Phenotype
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Syndrome