Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Developmental, Psychiatric, and Genetic Profiles of the 22q11.2 Deletion Syndrome

  • Laurie CardonaEmail author
  • Elena L. Grigorenko
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_1621-3


Short Description or Definition

One of the most common genomic syndromes involving multiple anomalies is Chromosome 22q11.2 deletion syndrome. Although there are earlier mentions of the disorder clinically, going back to 1829 (Greenberg 1993), the syndrome was first exemplified in detail by Angelo DiGeorge in 1968 (DiGeorge 1968) and by R. J. Shprintzen and colleagues in 1978 (Shprintzen et al. 1978); all presented children demonstrated clinical abnormalities such as underactive parathyroid gland, underdeveloped thymus, palate defects, facial anomalies, heart defects, and cognitive limitations. In the 1970s, the syndrome was also noted by Kinouchi et al. (1976), who labeled the condition as conotruncal anomaly face syndrome. Ultimately, in the 1990s, the specific genetic cause for the condition was identified as a microdeletion (i.e., a deletion of a part of a chromosome) of chromosome 22 at band q11.2 (Scambler et al. 1992). Thus, over the years, this genomic disorder...

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Authors and Affiliations

  1. 1.Yale Child Study CenterNew HavenUSA
  2. 2.University of HoustonHoustonUSA