Segmental isodisomy in Prader –Willi syndrome patients: The experience of a single diagnostic center

Prader –Willi syndrome (PWS) is characterized by the distinguishing dysmorphic facial and body features, infantile hypotonia, developmental delay, and morbid obesity that results from polyphagia. It is caused by a lack of expression of paternal-inherited genes on chromosome 15q11.2–15q13 through variou s mechanisms, including paternal deletion that accounts for 70% of cases, maternal uniparental disomy (UPD) of chromosome 15 that accounts for 20%–30% of cases, and the least common, the imprinting center defects.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Short Communication Source Type: research