Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


The human chromosome 22q11.2 region is associated with large blocks of highly homologous low copy repeats interspersed in the region, leading to meiotic chromosome rearrangements. The molecular mechanism for this is by nonallelic homologous recombination resulting in the 22q11.2 deletion syndrome, previously described clinically as DiGeorge syndrome or velocardiofacial syndrome, among other conditions described in Chapter 1. In this chapter, we will focus on understanding the overall genomic architecture of the 22q11.2 region and key genes located within the interval and how additional genes elsewhere in the genome can contribute to their varied phenotypic expression.

Original languageEnglish (US)
Title of host publicationThe Chromosome 22q11.2 Deletion Syndrome
Subtitle of host publicationA Multidisciplinary Approach to Diagnosis and Treatment
Number of pages19
ISBN (Electronic)9780128160473
ISBN (Print)9780128160480
StatePublished - Jan 1 2022


  • 22q11.2
  • CRKL
  • Cytogenetics
  • Deletion size
  • Genetic modifiers
  • LCR22
  • Low copy repeats
  • Mouse models
  • Nonallelic homologous recombination
  • TBX1

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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