A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

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 low-copy 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.

Descartes, Maria (author)
Piotrowski, ArkadiuszUppsala universitet,Institutionen för genetik och patologi (author)
Andersson, RobinUppsala universitet,Centrum för bioinformatik(Swepub:uu)roand427 (author)
de Ståhl, Teresita DiazUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)terstahl (author)
Komorowski, JanUppsala universitet,Centrum för bioinformatik(Swepub:uu)jakom133 (author)
Bruder, Carl E. G.Uppsala universitet,Institutionen för genetik och patologi (author)
Dumanski, Jan P.Uppsala universitet,Institutionen för genetik och patologi(Swepub:uu)janduman (author)
Carroll, Andrew J. (author)
Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

In:American journal of medical genetics. Part A: Wiley143A:18, s. 2178-21841552-48251552-4833

By the author/editor: Mikhail, Fady M.; Descartes, Maria; Piotrowski, Arka ...; Andersson, Robin; de Ståhl, Teresi ...; Komorowski, Jan; show more...; Bruder, Carl E. ...; Dumanski, Jan P.; Carroll, Andrew ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Cell and Molecul ...

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