Article
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
American journal of medical genetics. Part A - 1 Jun 2012
Honda Shozo, Hayashi Shin, Nakane Takaya, Imoto Issei, Kurosawa Kenji, Mizuno Seiji, Okamoto Nobuhiko, Kato Mitsuhiro, Yoshihashi Hiroshi, Kubota Takeo, Nakagawa Eiji, Goto Yu-Ichi, Inazawa Johji
Abstract excerpt
Duplications of Xq28 harboring the methyl CpG binding protein 2 (MECP2) gene explain approximately 1% of X-linked intellectual disability (XLID). The common clinical features observed in patients with dup(X)(q28) are severe ID, infantile hypotonia, mild dysmorphic features and a history of recurrent infections, and MECP2 duplication syndrome is now recognized as a clinical entity. While some patients with this...
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