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Journal of the Korean Society of Neonatology 2007;14(2):247-252.
Published online November 1, 2007.
A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13).
Jong Kwon Kim, Hyun Paek, Eun Jung Yoo, Kwon Jung, Kyu Keun Sun, Eun Young Kim, Kyoung Sim Kim, Yong Wook Kim, Yoon Sik Kim
1Department of Pediatrics, Kwangju Chistian Hospital, Gwangju, Korea. kskim000@naver.com
2Cytogenetics Division, Kwangju Chistian Hospital, Gwangju, Korea.
2번과 15번 염색체의 불균형 전좌로 인해 15번 염색체의 거대 결실을 보인 신생아 Prader-Willi 증후군 1례
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Abstract
Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70% of the patients have a paternal deletion on chromosome 15q11-13, which is mainly a microdeletion, and a large deletion due to an unbalanced structural translocation of the proximal long arm of chromosome 15 to several other chromosomes is rarely found. We encountered a neonatal case with Prader-Willi syndrome who had sustained hypotonia and feeding difficulty. On high-resolution chromosome analysis, deletion of the short arm and the proximal part of the long arm of chromosome 15, with unbalanced translocation of the remaining part of chromosome 15(q13-qter) to the terminal part q37 of chromosome 2, was shown to be <45,XX, -15, der(2) t(2;15) (q37:q13)>. Through FISH (Fluorescence in situ hybridization) and methylation-specific DNA PCR, we confirmed the deleted q11-13 was derived from the father.
Key Words: Prader-Willi syndrome, Large deletion, Translocation
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