Search: onr:"swepub:oai:DiVA.org:uu-13614" >
A previously unreco...
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
-
Mikhail, Fady M. (author)
-
Descartes, Maria (author)
-
- Piotrowski, Arkadiusz (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
show more...
-
- Andersson, Robin (author)
- Uppsala universitet,Centrum för bioinformatik
-
- de Ståhl, Teresita Diaz (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
- Komorowski, Jan (author)
- Uppsala universitet,Centrum för bioinformatik
-
- Bruder, Carl E. G. (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
- Dumanski, Jan P. (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
Carroll, Andrew J. (author)
-
show less...
-
(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
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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)
Find in a library
To the university's database