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Prader-Willi Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting from uniparental disomy. The incidence of Prader-Willi syndrome is approximately 1/10,000–1/15,000 individuals.

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  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Prader-Willi Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_196

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