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KMID : 0981820090290040366
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Korean Journal of Laboratory Medicine
2009 Volume.29 No. 4 p.366 ~ p.370
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Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation
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Park In-Yang
Kim Myung-Shin
Shin Jong-Chul
Lim Ji-Hyang
Kim Yong-Goo
Han Kyung-Ja
Kwon Ji-Young
Koo Bo-Kyung
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Abstract
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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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KEYWORD
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Pallister-Killian syndrome, multicolor banding technique, fluorescence in situ hybridization, pulmonary stenosis, right ventricular dilatation
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