Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

doi:10.2174/1573396312666151123115250

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Article

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Current pediatric reviews - 1 Jan 2016

Butler Merlin G, Manzardo Ann M, Forster Janice L

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is a neuro-developmental genetic disorder due to lack of expression of genes inherited from the paternal chromosome 15q11-q13 region with three main genetic subtypes. These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 15 or both 15s from the mother (20-30% of cases), and defects in the imprinting center (1-3%) which controls the...

Topics

Child
Child, Preschool
Cognition Disorders
Developmental Disabilities
Gene Expression Profiling
Genetic Counseling
Hormone Replacement Therapy
Humans
Hyperphagia
Obesity
Phenotype
Practice Guidelines as Topic
Prader-Willi Syndrome
Prognosis

Source

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Identifiers

PMID: 26592417
DOI: 10.2174/1573396312666151123115250
PMCID: PMC6742515

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