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박인양,신종철,김명신,임지향,김용구,한경자,권지영,구보경 대한진단검사의학회 2009 Annals of Laboratory Medicine Vol.29 No.4
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. 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.
A case of Duplication 9p Syndrome with a Small SupernumeraryMarker Derived from Chromosome 9
박인양,김용구,임지향,김명신,한경자,성인경,신종철 한국유전학회 2006 Genes & Genomics Vol.28 No.4
Trisomy 9p is a wel described entity including growth and mental retardation and facial , a syndrome concurrent with a smal supernumerary marker chromosome (sSMC). A male infant was ascertained at 1 month because of feding problem and abnormal facial and hand appearance. Using fluorescence in situ hybridization, we proved that an inverted duplication of 9p13 → 9p24 with 1 DNA material.