A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
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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 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.
Original language | English |
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Journal | American Journal of Medical Genetics. Part A |
Volume | 143A |
Issue number | 18 |
Pages (from-to) | 2178-84 |
Number of pages | 7 |
ISSN | 1552-4825 |
DOIs | |
Publication status | Published - 15 Sep 2007 |
Externally published | Yes |
- Abnormalities, Multiple, Adolescent, Chromosome Banding, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Pair 22, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Proto-Oncogene Proteins c-bcr, Syndrome
Research areas
ID: 106776413