Article
Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.
American journal of medical genetics. Part A - 1 Jun 2016
Bengoa-Alonso Amaya, Artigas-López Mercè, Moreno-Igoa María, Cattalli Claudio, Hernández-Charro Blanca, Ramos-Arroyo Maria Antonia
Abstract excerpt
The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22-D, while the recurrent recombination between any of the LCR22-D to H causes the 22q11.2 distal deletion syndrome. Here, we describe three patients with a de novo atypical ∼1.4 Mb 22q11.2 deletion that involves LCR22-C to a region beyond D (LCR22-C to D/E), encompassing the distal portion...
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