title: XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.
abstract: 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.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.forename: Almundher
authors.initials: A
authors.lastname: Al-Maawali
authors.forename: Andrea
authors.initials: A
authors.lastname: Guerin
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome