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Korean J Lab Med. 2009 Aug;29(4):366-370. English. Case Report. https://doi.org/10.3343/kjlm.2009.29.4.366
Park IY , Shin JC , Kwon JY , Koo BK , Kim M , Lim J , Kim Y , Han K .
Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
Catholic Genetic Laboratory Center, Seoul, Korea. microkim@catholic.ac.kr
Department of Laboratory Medicine, Seoul St. Mary's Hospital, Seoul, Korea.
Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.
Abstract

Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

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