contiguous gene syndrome

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contiguous gene syndrome2016-11-25T13:11:08+00:00

contiguous gene syndrome 

GENETICS

A term of art for a hereditary condition caused by the deletion of part of a chromosome bearing multiple genes.

As an example, hypotonia-cystinuria syndrome (OMIM:606407) is caused by a deletion of SLC3A1–which results in isolated cystinuria type I, and PREPL. Deletion of other genes–e.g., PPM1B C2ORF34, and possibly others, result in a more severe and slightly different phenotypic expressions of contiguous gene syndromes.

Synonym Adjacent gene syndrome 

Reference http://www.omim.org/entry/606407

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