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

Authors

  • Suraiya Begum Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka 1000, Bangladesh.
  • Farzana Sharmin Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Dhiraj Chandra Biswash Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Anika Tasneem Chowdhury 2Project Research Physician, International Center for Diarrhoeal Disease Research, Bangladesh (icddr,b), Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bmrcb.v48i3.63823

Keywords:

Prader-Willi syndrome, genome-wide copy number variation analysis, high resolution chromosome gene imprinting

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

Downloads

Download data is not yet available.
Abstract
47
PDF
49

Downloads

Published

2023-05-30

How to Cite

Begum, S., Sharmin, F. ., Biswash, D. C., & Chowdhury, A. T. . (2023). Prader -Willi Syndrome: Deletion of Chromosome 15q11.2-q13 in Paternal Allele. Bangladesh Medical Research Council Bulletin, 48(3), 244–248. https://doi.org/10.3329/bmrcb.v48i3.63823

Issue

Vol. 48 No. 3 (2022)

Section

Case Report

License

Copyright (c) 2022 Suraiya Begum, Farzana Sharmin, Dhiraj Chandra Biswash, Anika Tasneem Chowdhury

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms.

Authors retain copyright and grant the journal right of first publication.

Creative Commons Licence
Articles in the Bangladesh Medical Research Council Bulletin are licensed under a Creative Commons Attribution 4.0 International License (CC-BY) that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).