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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.