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

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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