Microdeletion 17q21.31 syndrome

Posted by & filed under Part 05: CHROMOSOMES, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

In the September 2006 issue of Nature Genetics, three groups identify a new microdeletion syndrome (microdeletion 17q21.31). The major clinical features of this syndrome are severe hypotonia and moderate mental retardation
See the News and Views article by James R. Lupski:

Nat Genet. 2006 Sep;38(9):974-6.

Genome structural variation and sporadic disease traits.

Lupski JR.

James R. Lupski is in the Department of Molecular and Human Genetics and the
Department of Pediatrics, Baylor College of Medicine and Texas Children’s
Hospital, Houston, Texas, USA.
See also the artcles by Koolen DA et al., Shaw-Smith C et al. and Sharp J et al.

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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