Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy.

Joung, So Young; Park, Ji Kwon; Kim, Seon Im; Kang, Ho Young; Shin, Jeong Kyu; Lee, Soon Ae; Lee, Jong Hak; Paik, Won Young

Case Report

Korean Journal of Obstetrics & Gynecology 2007;50(10):1409-1413.
Published online October 1, 2007.

Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy.

So Young Joung, Ji Kwon Park, Seon Im Kim, Ho Young Kang, Jeong Kyu Shin, Soon Ae Lee, Jong Hak Lee, Won Young Paik

¹Department of Obstetrics and Gynecology, College of Medicine, Gyeongsang National University, JinJu, Korea. wypaik@gnu.ac.kr
²Gyeongsang Institute of Health Sciences, Jinju, Korea.

Abstract

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.

Key Words: Partial trisomy 3q, Omphalocele, Chorionic villi sampling