Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.
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.
Park
In Yang
IY
Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
Shin
Jong Chul
JC
Kwon
Ji Young
JY
Koo
Bo Kyung
BK
Kim
Myungshin
M
Lim
Jihyang
J
Kim
Yonggoo
Y
Han
Kyungja
K
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*