Molecular genetics of 22q11.2 deletion syndrome

Bernice E. Morrow, Donna M. McDonald-McGinn, Beverly S. Emanuel, Joris R. Vermeesch, Peter J. Scambler

Research output: Contribution to journalReview articlepeer-review

86 Scopus citations


The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts to understand the mechanisms responsible for the 22q11.2 deletion that occurs in meiosis. This mechanism involves the four sets of low copy repeats (LCR22) that are dispersed in the 22q11.2 region and the deletion is mediated by nonallelic homologous recombination events. This review also highlights selected genes mapping to the 22q11.2 region that may contribute to the typical clinical findings associated with the disorder and explain that mutations in genes on the remaining allele can uncover rare recessive conditions. Another important aspect of 22q11.2DS is the existence of phenotypic heterogeneity. While some patients are mildly affected, others have severe medical, cognitive, and/or psychiatric challenges. Variability may be due in part to the presence of genetic modifiers. This review discusses current genome-wide efforts to identify such modifiers that could shed light on molecular pathways required for normal human development, cognition or behavior.

Original languageEnglish (US)
Pages (from-to)2070-2081
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
StatePublished - Oct 2018


  • 22q11.2 deletion syndrome
  • DiGeorge syndrome
  • birth defect syndrome
  • chromosome rearrangements
  • congenital malformation
  • pharyngeal apparatus
  • velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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