Article
Central 22q11.2 deletions.
American journal of medical genetics. Part A - 1 Nov 2014
Rump Patrick, de Leeuw Nicole, van Essen Anthonie J, Verschuuren-Bemelmans Corien C, Veenstra-Knol Hermine E, Swinkels Mariëlle E M, Oostdijk Wilma, Ruivenkamp Claudia, Reardon Willie, de Munnik Sonja, Ruiter Mariken, Frumkin Ayala, Lev Dorit, Evers Christina, Sikkema-Raddatz Birgit, Dijkhuizen Trijnie, van Ravenswaaij-Arts Conny M
Abstract excerpt
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22-A and LCR22-D. Loss of the TBX1 gene is considered the most important cause of the phenotype. A limited number of patients with smaller, overlapping deletions distal to the TBX1 locus have been described in the literature. In these patients, the...
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