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Prader-Willi syndrome

Pronunciation: pra'der vil'i

Definition: a congenital syndrome characterized by short stature, mental retardation, polyphagia with marked obesity, and sexual infantilism; severe muscular hypotonia and poor responsiveness to external stimuli decrease with age; a small deletion is demonstrable in the paternal-derived chromosome 15q11–13 in many cases; some cases are due to maternal uniparental disomy (both chromosomes 15 are derived from the mother).

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.