title: Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.
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.
authors.affiliation: Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
authors.forename: In Yang
authors.initials: IY
authors.lastname: Park
authors.forename: Jong Chul
authors.initials: JC
authors.lastname: Shin
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Kwon
authors.forename: Bo Kyung
authors.initials: BK
authors.lastname: Koo
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Jihyang
authors.initials: J
authors.lastname: Lim
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.forename: Kyungja
authors.initials: K
authors.lastname: Han
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011666:Pulmonary Valve Stenosis / Q000000981:diagnostic imaging*; D014463:Ultrasonography; D018497:Ventricular Dysfunction, Right / Q000000981:diagnostic imaging*