Search: WFRF:(Carroll Andrew J.)
> (2007-2009) >
Distal 22q11.2 micr...
-
Descartes, Maria
(author)
Distal 22q11.2 microduplication encompassing the BCR gene
- Article/chapterEnglish2008
Publisher, publication year, extent ...
-
Wiley,2008
-
printrdacarrier
Numbers
-
LIBRIS-ID:oai:DiVA.org:uu-102330
-
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-102330URI
-
https://doi.org/10.1002/ajmg.a.32572DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
Subject category:art swepub-publicationtype
Notes
-
Chromosome 22 band q11.2 has been recognized to be highly susceptible to subtle microdeletions and microduplications, which have been attributed to the presence of several large segmental duplications; also known as low copy repeats (LCRs). These LCRs function as mediators of non-allelic homologous recombination (NAHR), which results in these chromosomal rearrangements as a result of unequal crossover. The four centromeric LCRs at proximal 22q11.2 have been previously implicated in recurrent chromosomal rearrangements including the DiGeorge/Velocardiofacial syndrome (DG/VCFs) microdeletion and its reciprocal microduplication. Recently, we and others have demonstrated that the four telomeric LCRs at distal 22q11.2 are causally implicated in a newly recognized recurrent distal 22q11.2 microdeletion syndrome in the region immediately telomeric to the DG/VCFs typically deleted region. Here we report on the clinical, cytogenetic, and array CGH studies of a 4.5-year-old girl with history of failure to thrive, developmental delay (DD), and relative macrocephaly. She carries a paternally inherited approximately 2.1 Mb microduplication at distal 22q11.2, which spans approximately 34 annotated genes, and is flanked by two of the four telomeric 22q11.2 LCRs. We conclude that the four telomeric LCRs at distal 22q11.2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features.
Subject headings and genre
-
developmental delay
-
mental retardation
-
learning problems
-
distal 22q11.2
-
novel microduplication
-
BCR gene
-
array CGH
-
MEDICINE
-
MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
-
Franklin, Judy
(author)
-
de Ståhl, Teresita DiazUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)testahl
(author)
-
Piotrowski, Arkadiusz
(author)
-
Bruder, Carl E. G.
(author)
-
Dumanski, Jan P.
(author)
-
Carroll, Andrew J.
(author)
-
Mikhail, Fady M.
(author)
-
Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
-
In:American journal of medical genetics. Part A: Wiley146A:23, s. 3075-30811552-48251552-4833
Internet link
Find in a library
To the university's database