Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion

Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion

Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the absence of expression of genes in the 15q11–q13 region on the paternally derived chromosome 15. The present case report describes the chromosomal anomalies suspected to be present in a neonate, detected using Chromosomal Micr...

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Bibliographic Details
Main Authors: Senthilraja Ramalingam, Srividya Ganapathy, Jayaswathi Kanchepalli, Vani Jayaraj, Mani Mariyappa
Format: Article
Language:English
Published: University of Sarajevo, Institute for Genetic Engineering and Biotechnology 2025-05-01
Series:Genetics & Applications
Subjects:
Prader-Willi Syndrome (PWS)
Chromosomal Microarray Analysis (CMA)
Genetic Abnormality
Online Access:https://genapp.ba/editions/index.php/journal/article/view/232
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