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Published: 2023-11-30
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DOI: https://doi.org/10.52852/tcncyh.v172i11.1954
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Vol. 172 No. 11 (2023)
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Lan, A. T., Mộc, H. T. T., Nga, T. T., Nhung, Đinh T. H., Liễu, L. T., Ngọc, N. T. B., Huy, N. X., Huyền, T. T., Thuỷ, D. T. T., Tuấn, P. Q., Chung, H. T., Tiến, N. M., Mai, N. T. P., Thảo, B. P., & Ngọc, N. D. (2023). 34. Phenotype and rare genetic abnormalities in a patient with prader-willi syndrome: Case report. Journal of Medical Research, 172(11), 313-321. https://doi.org/10.52852/tcncyh.v172i11.1954

34. Phenotype and rare genetic abnormalities in a patient with prader-willi syndrome: Case report

An Thuy Lan, Hoang Thi Thanh Moc, Tran Thi Nga, Dinh Thi Hong Nhung, Le Thi Lieu, Ngo Thi Bich Ngoc, Nguyen Xuan Huy, Tran Thi Huyen, Duong Thi Thu Thuy, Pham Quoc Tuan, Hoang Tien Chung, Ngo Manh Tien, Nguyen Thi Phuong Mai, Bui Phuong Thao, Ngo Diem Ngọc

Main Article Content

Abstract

Prader-Willi Syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, then transitioning to a subsequent phase of excessive eating and gradual development of morbid obesity in early childhood. Children with PWS exhibit delayed motor and language development. The prevalence of PWS in the population is estimated at 1/10,000 to 1/30,000. PWS is classified as a contiguous gene syndrome arising from abnormal DNA methylation within the Prader-Willi critical region at 15q11.2-q13. Small supernumerary marker chromosome (sSMA) was defined as structurally abnormal chromosome. This report presents a case study of a 1-month-old male infant diagnosed with PWS due to a rare abnormal karyotype 47,XY,+min(15)(qter->q11.1:). Molecular genetics analysis showed uniparental disomy of maternal chromosome 15q11.2-q13 region (mUPD15). This case highlights the importance of genetic analysis in confirming diagnosis of PWS.

Article Details

Keywords

Prader-Willi syndrome, multiple birth defects, chromosome 15q11-q13, Uniparental Disomy (UPD)

References

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