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Distal 22q11.2 microduplication encompassing the BCR gene
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2008 (English)In: American journal of medical genetics. Part A, ISSN 1552-4825, Vol. 146A, no 23, 3075-3081 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2008. Vol. 146A, no 23, 3075-3081 p.
Keyword [en]
developmental delay, mental retardation, learning problems, distal 22q11.2, novel microduplication, BCR gene, array CGH
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-102330DOI: 10.1002/ajmg.a.32572ISI: 000261636100014PubMedID: 19006218OAI: oai:DiVA.org:uu-102330DiVA: diva2:214676
Available from: 2009-05-06 Created: 2009-05-06 Last updated: 2010-08-10Bibliographically approved

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de Ståhl, Teresita DiazDumanski, Jan P.
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