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Nat Rev Genet. 2001 Nov;2(11):858-68.

Chromosomal microdeletions: dissecting del22q11 syndrome.

Author information

1
Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA. e.lindsay@bcm.tmc.edu

Abstract

Identifying the genes that underlie the pathogenesis of chromosome deletion and duplication syndromes is a challenge because the affected chromosomal segment can contain many genes. The identification of genes that are relevant to these disorders often requires the analysis of individuals that carry rare, small deletions, translocations or single-gene mutations. Research into the chromosome 22 deletion (del22q11) syndrome, which encompasses DiGeorge and velocardiofacial syndrome, has taken a different path in recent years, using mouse models to circumvent the paucity of informative human material. These mouse models have provided new insights into the pathogenesis of del22q11 syndrome and have established strategies for research into chromosomal-deletion and -duplication syndromes.

PMID:
11715041
DOI:
10.1038/35098574
[Indexed for MEDLINE]

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