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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University of Sarajevo, Institute for Genetic Engineering and Biotechnology
2025-05-01
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| Series: | Genetics & Applications |
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| Online Access: | https://genapp.ba/editions/index.php/journal/article/view/232 |
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| author | Senthilraja Ramalingam Srividya Ganapathy Jayaswathi Kanchepalli Vani Jayaraj Mani Mariyappa |
| author_facet | Senthilraja Ramalingam Srividya Ganapathy Jayaswathi Kanchepalli Vani Jayaraj Mani Mariyappa |
| author_sort | Senthilraja Ramalingam |
| collection | DOAJ |
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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 Microarray analysis, an advanced platform for genetic analysis. Whole blood sample of the patient was analysed to reveal a pathogenic deletion spanning the region 15q11.2–q13.3; a rare and extended deletion involving breakpoints BP1 to BP5. The identification of this atypical deletion underscores the importance of precise genetic characterization in PWS diagnosis. Early detection through cutting-edge genetic testing enables timely intervention and management of associated abnormalities, highlighting the significance of integrating advanced genomic analysis into clinical practice. The current study contributes to the growing understanding of PWS genetics and emphasizes the need for comprehensive genetic evaluation in patients with suspected PWS.
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| format | Article |
| id | doaj-art-1c408af801fd4b3486df0507f9ccbb15 |
| institution | OA Journals |
| issn | 2566-2937 2566-431X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | University of Sarajevo, Institute for Genetic Engineering and Biotechnology |
| record_format | Article |
| series | Genetics & Applications |
| spelling | doaj-art-1c408af801fd4b3486df0507f9ccbb152025-08-20T02:17:01ZengUniversity of Sarajevo, Institute for Genetic Engineering and BiotechnologyGenetics & Applications2566-29372566-431X2025-05-019110.31383/ga.vol9iss1ga04Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletionSenthilraja Ramalingam0Srividya Ganapathy1Jayaswathi Kanchepalli2Vani Jayaraj3Mani Mariyappa4Faculty of Genomic Division, Microbiological Laboratory, Karnataka-560060, IndiaFaculty of Genomic Division, Microbiological Laboratory, Karnataka-560060, IndiaFaculty of Genomic Division, Microbiological Laboratory, Karnataka-560060, IndiaCytogenetics Division, Microbiological Laboratory, Tamilnadu-641002, IndiaFaculty of Genomic Division, Microbiological Laboratory, Karnataka-560060, India; Cytogenetics Division, Microbiological Laboratory, Tamilnadu-641002, India 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 Microarray analysis, an advanced platform for genetic analysis. Whole blood sample of the patient was analysed to reveal a pathogenic deletion spanning the region 15q11.2–q13.3; a rare and extended deletion involving breakpoints BP1 to BP5. The identification of this atypical deletion underscores the importance of precise genetic characterization in PWS diagnosis. Early detection through cutting-edge genetic testing enables timely intervention and management of associated abnormalities, highlighting the significance of integrating advanced genomic analysis into clinical practice. The current study contributes to the growing understanding of PWS genetics and emphasizes the need for comprehensive genetic evaluation in patients with suspected PWS. https://genapp.ba/editions/index.php/journal/article/view/232Prader-Willi Syndrome (PWS)Chromosomal Microarray Analysis (CMA)Genetic Abnormality |
| spellingShingle | Senthilraja Ramalingam Srividya Ganapathy Jayaswathi Kanchepalli Vani Jayaraj Mani Mariyappa Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion Genetics & Applications Prader-Willi Syndrome (PWS) Chromosomal Microarray Analysis (CMA) Genetic Abnormality |
| title | Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion |
| title_full | Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion |
| title_fullStr | Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion |
| title_full_unstemmed | Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion |
| title_short | Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion |
| title_sort | unveiling a rare genetic aberration a case study of prader willi syndrome pws with atypical 15q11 2 q13 3 deletion |
| topic | Prader-Willi Syndrome (PWS) Chromosomal Microarray Analysis (CMA) Genetic Abnormality |
| url | https://genapp.ba/editions/index.php/journal/article/view/232 |
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