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

Komudi Siriwardena; Almundher Al-Maawali; Andrea Guerin; Susan Blaser; David Chitayat

doi:10.1002/ajmg.a.35945

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

Komudi Siriwardena, Almundher Al-Maawali, Andrea Guerin, Susan Blaser, David Chitayat^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1714-1717
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	161
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.35945
Publication status	Published - Jul 2013
Externally published	Yes

Keywords

Cerebellar atrophy
Intellectual disability
Pontocerebellar hypoplasia
Sex reversal
XY gonadal dysgenesis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

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AU - Guerin, Andrea

AU - Blaser, Susan

AU - Chitayat, David

PY - 2013/7

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AB - 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.

KW - Cerebellar atrophy

KW - Intellectual disability

KW - Pontocerebellar hypoplasia

KW - Sex reversal

KW - XY gonadal dysgenesis

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

Abstract

Keywords

ASJC Scopus subject areas

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