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Agenesis of the corpus cállosum in Turner syndrome with ring X
Author(s) -
Abd Samaa El,
Wilson Liz,
Howlin Patricia,
Patton Michael A.,
Wintgens Alison M.,
Wilson Richard
Publication year - 1997
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1997.tb07394.x
Subject(s) - agenesis of the corpus callosum , turner syndrome , girl , agenesis , medicine , ring chromosome , pediatrics , karyotype , x chromosome , kabuki syndrome , psychology , gynecology , corpus callosum , anatomy , biology , developmental psychology , genetics , chromosome , gene
An 8‐year‐old girl with Turner syndrome and 45,X/48,X,r (X) mosaicism was found to have agenesis of the corpus callosum and various other characteristics including ‘kabuki makeup’ facial features and mild learning disability. Only two other cases of Turner syndrome associated with agenesis of the corpus callosum have been reported, both in patients with a 45,X karyotype. In both of those patients the constellation of signs differed from those of the present patient in a number of ways. It remains to be confirmed whether there is a higher incidence of CNS malformation in girls who have Turner syndrome with a ring X than has been reported for girls with Turner syndrome in general.