Article

Evaluation of an in house genetic testing method for confirmation of Prader - Willi and Angelman syndromes in Sri Lanka

2021-02-12

Abstract excerpt

<h4>Introduction: </h4> Prader-Willi syndrome (PWS, MIM 17620) and Angelman syndrome (AS, MIM 105830) are caused by imprinting defects of chromosome 15q11-13, with loss of maternal gene expression causing AS and paternal gene expression causing PWS. The diagnosis, once established in most cases using a methylation sensitive PCR test, enables appropriate therapeutic interventions and avoids the need for further gen...

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Literature Corpus work: 31685ba4-4c94-5246-8c08-74d1941d6926
DOI: 10.21203/rs.3.rs-215039/v1

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