Prader -Willi Syndrome: Deletion of Chromosome 15q11.2-q13 in Paternal Allele

Abstract

Prader Willi Syndrome (PWS) is one of the most common genetic condition of childhood morbid obesity. Absence of expression of the paternally active genes on the long arm of chromosome 15 is responsible for this syndrome. A 4-year-old girl, presented with excessive weight gain since early infancy. She has developmental delay, mental retardation and Her physical features were suggestive of Prader-Willi syndrome. MS PCR detected deletion of the specific chromosomal region 15q11.2-q13 in the paternal allele which is causative of Prader-Willi syndrome. The syndrome has no cure but multidisciplinary approaches are available to improve associated problems. We confirm the case of Prader Willi Syndrome by genetic analysis, which is important for those who present with obesity and mental retardation. Bangladesh Medical Res Counc Bull 2022; 48(3): 244-248