chromosome Xp11.22 duplication syndrome

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chromosome Xp11.22 duplication syndrome2016-11-25T09:08:01+00:00

chromosome Xp11.22 duplication syndrome

GENETICS, NEUROLOGY

Definition A nonsyndromic X-linked condition (OMIM:300705) characterised by profound mental retardation and impaired adaptive behaviour, which is first seen during early development.

Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, whilst syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

Molecular pathology Microduplications of chromosome Xp11.22, a region that includes:

HSD17B10  (OMIM:300256) which encodes hydroxysteroid dehydrogenase

and

HUWE1 (OMIM:300697), which encodes E3 ubiquitin-protein ligase

cause chromosome Xp11.22 duplication syndrome. 

Synonym Mental retardation—X-linked 17, mental retardation—X-linked 31

References http://www.uniprot.org/uniprot/Q7Z6Z7

http://www.omim.org/entry/300705

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