| 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). |
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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 |
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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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