Agenesis of the corpus cállosum in Turner syndrome with ring X

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 co...

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Bibliographic Details
Published in:Developmental medicine and child neurology 1997-02, Vol.39 (2), p.119-124
Main Authors: Abd, Samaa El, Wilson, Liz, Howlin, Patricia, Patton, Michael A., Wintgens, Alison M., Wilson, Richard
Format: Article
Language:English
Subjects:
Agenesis of Corpus Callosum
Child
Chromosome Banding
Corpus Callosum - pathology
Female
Humans
Magnetic Resonance Imaging
Turner Syndrome - genetics
Turner Syndrome - pathology
X Chromosome - genetics
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Summary: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.
ISSN:0012-1622
1469-8749
DOI:10.1111/j.1469-8749.1997.tb07394.x