Article
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.
BMC medical genetics - 30 Jan 2014
Stagi Stefano, Lapi Elisabetta, Pantaleo Marilena, Chiarelli Francesco, Seminara Salvatore, de Martino Maurizio
Abstract excerpt
BACKGROUND: Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely reported. However, the presence of a typical Prader-Willi-like phenotype in patients with monosomy 1p36 is controversial. CASE PRESENTATION: In this report, we describe two female patients, one...
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