Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1

Judith Verhagen, Karin Diderich, Grietje Oudesluijs, Grazia Verheijen - Mancini, Alex Eggink, AC Verkleij-Hagoort, Irene Groenenberg, PJ Willems, Frederik Plessis, Stella Man, Gosia Srebniak, D Opstal, Lorette Hulsman, Laura van Zutven, Marja Wessels

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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. (C) 2012 Wiley Periodicals, Inc.
Original languageUndefined/Unknown
Pages (from-to)2412-2420
Number of pages9
JournalAmerican Journal of Medical Genetics Part A
Issue number10
Publication statusPublished - 2012

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