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Article

Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.

Genes - 25 Jan 2020

Tan Qiming, Potter Kathryn J, Burnett Lisa Cole, Orsso Camila E, Inman Mark, Ryman Davis C, Haqq Andrea M

Abstract excerpt

We report a 17-year-old boy who met most of the major Prader-Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facial features. However, unlike many children with PWS, he had spontaneous onset of puberty and reached a tall adult stature without growth hormone replacement therapy. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31991769
DOI: 10.3390/genes11020128
PMCID: PMC7073628

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