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KMID : 0438520070140020247
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Journal of the Korean Society of Neonatology
2007 Volume.14 No. 2 p.247 ~ p.252
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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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Kim Jong-Kwon
Paek Hyun
Yoo Eun-Jung
Jung Kwon
Sun Kyu-Keun
Kim Eun-Young
Kim Kyoung-Sim
Kim Yong-Wook
Kim Yoon-Sik
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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.
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KEYWORD
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Prader-Willi syndrome, Large deletion, Translocation
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