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Prader-Willi and Angelman Syndromes: Mechanisms and Management.

1 Jan 2023

Abstract excerpt

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is deletion of the maternal or paternal 15q11q13 region. Methylation is the first line for molecular diagnostic testing; MS-MLPA is the most sensitive test. The molecular subtype of...

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PMID: 37051256
DOI: 10.2147/tacg.s372708

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