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

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Encyclopedia of Autism Spectrum Disorders

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Synonyms

VCFS

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. Yale Child Study Center, New Haven, CT, USA

    Laurie Cardona

  2. University of Houston, Houston, TX, USA

    Elena L. Grigorenko

Authors
  1. Laurie Cardona
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  2. Elena L. Grigorenko
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Correspondence to Laurie Cardona .

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  1. Yale Child Study Center, New Haven, CT, USA

    Fred R. Volkmar

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Cardona, L., Grigorenko, E.L. (2020). Developmental, Psychiatric, and Genetic Profiles of the 22q11.2 Deletion Syndrome. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_1621-3

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  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_1621-3

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