WFRF:(Carroll Andrew J.)
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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
- Mikhail, Fady M. (author)
- Descartes, Maria (author)
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- Piotrowski, Arkadiusz (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Carroll, Andrew J. (author)
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- (creator_code:org_t)
- Wiley, 2007
- 2007
- English.
- In: American journal of medical genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:18, s. 2178-2184
- Journal article (peer-reviewed)
Abstract
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- chromosome 22
- novel microdeletion
- BCR gene
- array CGH
- 32K BAC array
- Morphology, cell biology, pathology
- Morfologi, cellbiologi, patologi
Publication and Content Type
- ref (subject category)
- art (subject category)
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