Article
1p36 deletion syndrome associated with Prader-Willi-like phenotype.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2010
Tsuyusaki Yu, Yoshihashi Hiroshi, Furuya Noritaka, Adachi Masanori, Osaka Hitoshi, Yamamoto Kayono, Kurosawa Kenji
Abstract excerpt
BACKGROUND: 1p36 deletion syndrome is one of the most common subtelomeric deletion syndromes, characterized by moderate to severe mental retardation, characteristic facial appearance, hypotonia, obesity, and seizures. The clinical features often overlap with those of Prader-Willi syndrome (PWS). To elucidate the phenotype-genotype correlation in 1p36 deletion syndrome, two cases involving a PWS-like phenotype...
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