XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome | Zendy

Siriwardena Komudi | Zendy; AlMaawali Almundher | Zendy; Guerin Andrea | Zendy; Blaser Susan | Zendy; Chitayat David | Zendy

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XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

Author(s) -

Siriwardena Komudi,

AlMaawali Almundher,

Guerin Andrea,

Blaser Susan,

Chitayat David

Publication year - 2013

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.35945

Subject(s) - intellectual disability , hypoplasia , cerebellar hypoplasia (non human) , medicine , cerebellum , psychology , neuroscience , biology , genetics , anatomy

We report on a 46,XY female with pontocerebellar hypoplasia and intellectual disability. To our knowledge, this is the fourth reported patient with this constellation and further confirms a rare new syndrome. The condition is probably a single gene disorder with a currently unknown mode of inheritance. The causative gene is likely involved in the normal gonadal sex determination as well as the cerebral and cerebellar formation and function. © 2013 Wiley Periodicals, Inc.

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