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
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U2 - 10.1002/ajmg.a.35945
DO - 10.1002/ajmg.a.35945
M3 - Article
C2 - 23686794
AN - SCOPUS:84879460464
SN - 1552-4825
VL - 161
SP - 1714
EP - 1717
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -