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KMID : 0384119950150010152
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Korean Journal of Clinical Pathology
1995 Volume.15 No. 1 p.152 ~ p.156
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Two Cases of Prader-Willi Syndrome Comfirmed by Fluorescence In Situ Hybridization
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신연식
최석우/이존기/권계철/구선희/박종우
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Abstract
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Prader-Willi Syndrome(PWS) was described by Prader, Labhart, and Willi in 1956. In 50-60% a cytogenetic microdeletion is apparent at 15q11-13. The karyotype of patient by G-banding technique is usually expressed to 46, XY or 46, XX. To detect
microdeletion of chromosome 15q11-q13 region, we performed fluorescence in situ hybridization using a D15S11 Prader-Willi/Angelman chromosome region probe (Oncor, USA) and finally could identify PWS. We report two cases of PWS with a brief review
of
literature(Korean J Clin Pathol 1995;15(1) : 152~5).
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KEYWORD
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