Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the TBX1 gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g., CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome.

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American Journal of Medical Genetics. Part A
Erasmus MC: University Medical Center Rotterdam

Verhagen, J., Diderich, K., Oudesluijs, G., Mancini, G., Eggink, A., Verkleij-Hagoort , A., … Wessels, M. (2012). Phenotypic variability of atypical 22q11.2 deletions not including TBX1. American Journal of Medical Genetics. Part A, 158 A(10), 2412–2420. doi:10.1002/ajmg.a.35517