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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene
American Journal of Medical Genetics, Part A, Volume 143, No. 18, Year 2007
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Description
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. © 2007 Wiley-Liss, Inc.
Authors & Co-Authors
Mikhail, Fady M.
United States, Birmingham
The University of Alabama at Birmingham
Egypt, Alexandria
Faculty of Medicine
Descartes, Maria D.
United States, Birmingham
The University of Alabama at Birmingham
Piotrowski, Arkadiusz
United States, Birmingham
The University of Alabama at Birmingham
Sweden, Uppsala
Uppsala Universitet
Andersson, Robin
Sweden, Uppsala
Uppsala Universitet
Díaz De Ståhl, Teresita
Sweden, Uppsala
Uppsala Universitet
Komorowski, Jan
Sweden, Uppsala
Uppsala Universitet
Bruder, Carl E.G.
United States, Birmingham
The University of Alabama at Birmingham
Sweden, Uppsala
Uppsala Universitet
Dumanski, Jan P.
United States, Birmingham
The University of Alabama at Birmingham
Sweden, Uppsala
Uppsala Universitet
Carroll, Andrew J.
United States, Birmingham
The University of Alabama at Birmingham
Statistics
Citations: 43
Authors: 9
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.31882
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Genetics And Genomics
Participants Gender
Male