Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 18, Pages 2178-2184Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31882
Keywords
chromosome 22; novel microdeletion; BCR gene; array CGH; 32K BAC array
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Susceptibility of the chromosome 22q11.2 region to rearrangements has been recognized on the basis of common clinical disorders Such as the DiGeorge/velocardiofacial syndrome (DG/VCFs). Recent evidence has implicated lowcopy repeats (LCRs), also known as segmental,duplications; on 22q as mediators of nonallelic homologous recombination (NAHR) that result in rearrangements of 22q11.2. It has been shown that both deletion and duplication events can Occur as a result of NAHR caused by unequal crossover of LCRs. Here we report on the clinical, cytogenetic and array CGH studies of a 15-year-old Hispanic boy with history of learning and behavior problems. We Suggest that he represents a previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 just telomeric to the DG/VCFs typically deleted region and encompassing the BCR gene. Using a 32K BAC array CGH chip we were able to refine and precisely narrow the breakpoints of this microdeletion, which was estimated to be 1.55-1.92 Mb in size and to span approximately 20 genes. This microdeletion region is flanked by LCR clusters containing several modules with a very high degree of sequence homology (>95%), and therefore could play a causal role in its origin. (c) 2007 Wiley-Liss, Inc.
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