22q11.2 duplications: Expanding the clinical presentation

Am J Med Genet A. 2022 Mar;188(3):779-787. doi: 10.1002/ajmg.a.62577. Epub 2021 Nov 29.


22q11.2 duplication syndrome has a frequency of ~1/700 in the intellectual disability population. Despite this frequency, there is limited information on the variable clinical presentation. Although the phenotype and incidence of congenital anomalies are well described for 22q11.2 deletion syndrome, they are not as well understood for individuals with 22q11.2 duplication syndrome. This study is a single-center, retrospective review of patients diagnosed with 22q11.2 duplication syndrome designed to categorize the variable phenotype seen in these individuals. The data suggest that the incidence of congenital anomalies may be higher than previously reported for this syndrome. Affected individuals are at increased risk for a variety of problems including gastrointestinal complications, endocrine dysfunction, ophthalmologic abnormalities, palatal anomalies, congenital heart disease, musculoskeletal differences, and neurologic abnormalities. Individuals with 22q11.2 duplication syndrome would benefit from care coordinated by a multidisciplinary team and managed according to the 22q11.2 deletion syndrome guidelines.

Keywords: TBX1; chromosome 22q11.2; chromosome microarray; microduplication; multidisciplinary care; multiple anomaly syndrome.

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Chromosome Deletion
  • Chromosome Duplication / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • DiGeorge Syndrome* / diagnosis
  • DiGeorge Syndrome* / genetics
  • Heart Defects, Congenital* / genetics
  • Humans
  • Phenotype

Supplementary concepts

  • Chromosome 22q11.2 Microduplication Syndrome