Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation.
10.3343/kjlm.2009.29.4.366
- Author:
In Yang PARK
1
;
Jong Chul SHIN
;
Ji Young KWON
;
Bo Kyung KOO
;
Myungshin KIM
;
Jihyang LIM
;
Yonggoo KIM
;
Kyungja HAN
Author Information
1. Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Pallister-Killian syndrome;
multicolor banding technique;
fluorescence in situ hybridization;
pulmonary stenosis;
right ventricular dilatation
- MeSH:
Adult;
Chromosome Aberrations;
Chromosomes, Human, Pair 12;
Female;
Fetal Diseases/*diagnosis/genetics;
Gestational Age;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pregnancy;
*Prenatal Diagnosis;
Pulmonary Valve Stenosis/*ultrasonography;
Ventricular Dysfunction, Right/*ultrasonography
- From:The Korean Journal of Laboratory Medicine
2009;29(4):366-370
- CountryRepublic of Korea
- Language:English
-
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.
