The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Genet Couns. 1999;10(1):11-24.


A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Cohort Studies
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics*
  • Diagnosis, Differential
  • Facies
  • Female
  • Genetic Counseling
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Philadelphia
  • Velopharyngeal Insufficiency / diagnosis
  • Velopharyngeal Insufficiency / genetics*