Agenesis of the corpus callosum in Turner syndrome with ring X.

TitleAgenesis of the corpus callosum in Turner syndrome with ring X.
Publication TypeJournal Article
Year of Publication1997
AuthorsAbd SE, Wilson L, Howlin P, Patton MA, Wintgens AM, Wilson R
JournalDevelopmental medicine and child neurology
Date Published1997 Feb

An 8-year-old girl with Turner syndromei and 45,X/46,X,r(X) mosaicism was found to have agenesisi of the corpus callosumi 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 karyotypei. 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.

Alternate JournalDev Med Child Neurol
Citation Key9062427