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[Neurocristopathies and chromosome 22 deletions].

Authors
  • Aurias, A1
  • 1 INSERM U434, Institut Curie, Paris.
Type
Published Article
Journal
Comptes rendus des seances de la Societe de biologie et de ses filiales
Publication Date
Jan 01, 1996
Volume
190
Issue
5-6
Pages
569–575
Identifiers
PMID: 9074722
Source
Medline
Language
French
License
Unknown

Abstract

Microdeletions of 22q11.2 are associated with a wide range of congenital disorders involving structures derived from the third and fourth pharyngeal pouches. This observation suggests that one major gene playing a part in rhombencephalic neural crest cells migration is localized in this small genomic region. Seven new genes have already been mapped to this detected region. Even if there is no clear evidence for the involvement of one of these genes in the pathogenesis of the disorder, these new molecular data provide us with a very efficient diagnosis tool.

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