임신중기에 47,XYY핵형으로 산전 진단된 태아의 만삭분만 1예

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.