Komudi Siriwardena and Almundher Al-Maawali have contributed same to the manuscript preparation.
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome
Article first published online: 17 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1714–1717, July 2013
How to Cite
2013. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome. Am J Med Genet Part A 161A:1714–1717., , , , .
Conflict of interest: None.
- Issue published online: 19 JUN 2013
- Article first published online: 17 MAY 2013
- Manuscript Accepted: 26 FEB 2013
- Manuscript Received: 20 NOV 2012
- XY gonadal dysgenesis;
- sex reversal;
- cerebellar atrophy;
- pontocerebellar hypoplasia;
- intellectual disability
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.