Article
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia - 1 Dec 2003
Doherty Michael J, Glass Ian A, Bennett Craig L, Cotter Phil D, Watson Nate F, Mitchell Anna L, Bird Tom D, Farrell Don F
Abstract excerpt
PURPOSE: We describe two brothers with generalized epilepsy, attention deficits, congenital ichthyosis, and Leri-Weill dyschondrosteosis who harbor an unusual Xp; Yq translocation chromosome, resulting in a novel contiguous gene syndrome because of deletion of genes from the distal short arm of the X chromosome. METHODS: Physical examination, neuropsychologic testing, EEG, and neuroimaging studies were performed....
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