XY sex reversal, pontocerebellar hypoplasia and intellectual disability

Confirmation of a new syndrome

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

Research output: Contribution to journalArticle

4 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 languageEnglish
Pages (from-to)1714-1717
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number7
DOIs
Publication statusPublished - Jul 2013

Fingerprint

Intellectual Disability
Genes
Pontocerebellar Hypoplasia
XY female 46

Keywords

  • Cerebellar atrophy
  • Intellectual disability
  • Pontocerebellar hypoplasia
  • Sex reversal
  • XY gonadal dysgenesis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

XY sex reversal, pontocerebellar hypoplasia and intellectual disability : Confirmation of a new syndrome. / Siriwardena, Komudi; Al-Maawali, Almundher; Guerin, Andrea; Blaser, Susan; Chitayat, David.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 7, 07.2013, p. 1714-1717.

Research output: Contribution to journalArticle

Siriwardena, Komudi ; Al-Maawali, Almundher ; Guerin, Andrea ; Blaser, Susan ; Chitayat, David. / XY sex reversal, pontocerebellar hypoplasia and intellectual disability : Confirmation of a new syndrome. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 7. pp. 1714-1717.
@article{9c77279492824db88847fd30e63d9d1d,
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.",
keywords = "Cerebellar atrophy, Intellectual disability, Pontocerebellar hypoplasia, Sex reversal, XY gonadal dysgenesis",
author = "Komudi Siriwardena and Almundher Al-Maawali and Andrea Guerin and Susan Blaser and David Chitayat",
year = "2013",
month = "7",
doi = "10.1002/ajmg.a.35945",
language = "English",
volume = "161",
pages = "1714--1717",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "7",

}

TY - JOUR

T1 - XY sex reversal, pontocerebellar hypoplasia and intellectual disability

T2 - Confirmation of a new syndrome

AU - Siriwardena, Komudi

AU - Al-Maawali, Almundher

AU - Guerin, Andrea

AU - Blaser, Susan

AU - Chitayat, David

PY - 2013/7

Y1 - 2013/7

N2 - 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.

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

UR - http://www.scopus.com/inward/record.url?scp=84879460464&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84879460464&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.35945

DO - 10.1002/ajmg.a.35945

M3 - Article

VL - 161

SP - 1714

EP - 1717

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 7

ER -