A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
2007 (English)In: American journal of medical genetics. Part A, ISSN 1552-4825, Vol. 143A, no 18, 2178-2184 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2007. Vol. 143A, no 18, 2178-2184 p.
chromosome 22, novel microdeletion, BCR gene, array CGH, 32K BAC array
Cell and Molecular Biology
IdentifiersURN: urn:nbn:se:uu:diva-13614DOI: 10.1002/ajmg.a.31882ISI: 000249242200015PubMedID: 17676630OAI: oai:DiVA.org:uu-13614DiVA: diva2:41384