A Case of Full Term Delivery of a Child with 47,XYY Subsequent to Prenatal Diagnosis at Midtrimester.

Kang, Gyoung Sook; Kim, Sei Kwang; Yang, Young Ho; Lee, Chang Hee; Kim, Young Han; Cho, Jae Sung; Park, Ki Hyun

Obstet Gynecol Sci > Volume 44(9); 2001 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 2001;44(9):1724-1727.
Published online: September 1, 2001

A Case of Full Term Delivery of a Child with 47,XYY Subsequent to Prenatal Diagnosis at Midtrimester.

Gyoung Sook Kang, Sei Kwang Kim, Young Ho Yang, Chang Hee Lee, Young Han Kim, Jae Sung Cho, Ki Hyun Park

Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea.

Abstract

47,XYY is a rare sex chromosomal disorder. Approximately 1.45 per 1,000 live births have on XYY chromosome pattern. The extra Y chromosome is paternal in origin and RESULTS: from nondisjunction in the second meiotic division. Although the phenotype is normal on the newborn, an increased incidence of minor anomalies has been reported. Recently, a 37-year-old primigravid woman received amniocentesis at 17 weeks gestation at a private clinic and was diagnosed as having a fetus with 47,XYY. We performed amniocentesis again at 20 weeks of pregnancy and confirmed fetal karyotype to be 47,XYY using the conventional cytogenetics and fluorescence in situ hybridization (FISH) techniques. As she did not want to terminate her pregnancy, she was put under antenatal care but ended up in vaginal delivery in 40 weeks. As a result of physical examination, the neonate showed a normal phenotype except for a mild hypospadia and a simian crease.

Keywords: 47,XYY; Prenatal diagnosis; Nondisjunction; FISH