Journal Article

The 22q11 deletion syndromes

Peter J. Scambler

in Human Molecular Genetics

Volume 9, issue 16, pages 2421-2426
Published in print October 2000 | ISSN: 0964-6906
Published online October 2000 | e-ISSN: 1460-2083 | DOI:
The 22q11 deletion syndromes

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DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11. Many of the structural malformations observed are also seen in animal models of neural crest disruption suggesting that the haplo-insufficiency resulting from the deletion somehow affects this group of cells or their interactions. Over the past few years it has been shown that the deletion predisposes to a range of psychotic conditions prompting the hypothesis that the deleted region may contain a predisposition locus for psychotic illness. The DiGeorge chromosomal region has been entirely sequenced and many of the genes mapping to the deletion interval have been studied in some detail. Despite these efforts, no gene has yet been proved to play a defined role in the pathogenesis of the syndrome. Current efforts are directed at the study of engineered chromosome mouse models which offer the potential to dissect at least some of the developmental pathways disrupted in this intriguing group of malformation syndromes.

Journal Article.  5456 words.  Illustrated.

Subjects: Genetics and Genomics

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