Phupong Vorapong, Erjongmanee Suchada, Tanbirojn Patau, Lertkhachonsuk Ruangsak
Placental Related Diseases Research Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
SAGE Open Med Case Rep. 2021 Feb 1;9:2050313X21991000. doi: 10.1177/2050313X21991000. eCollection 2021.
Partial trisomy 22 is a rare condition that is found in live birth. In most cases, diagnosis of partial trisomy 22 was made after birth. Herein, we report a prenatal diagnosis of fetal partial trisomy 22 in a 28-year-old pregnant woman presented with fetal cystic hygroma. Structural abnormalities were detected at 16 weeks of gestation: left cleft lip and ventricular septal defect. The G-banding karyotype analysis and fluorescence in situ hybridization showed partial trisomy 22. It is recommended that pregnant women with fetal anomalies should have prenatal genetic diagnosis to ascertain whether the fetus has partial trisomy 22 or other rare chromosomal abnormalities.
22号染色体部分三体是一种在活产中发现的罕见病症。在大多数情况下，22号染色体部分三体是在出生后才得以诊断。在此，我们报告一例28岁孕妇胎儿22号染色体部分三体的产前诊断病例，该孕妇出现胎儿颈部水囊瘤。妊娠16周时检测到结构异常：左侧唇裂和室间隔缺损。G显带核型分析和荧光原位杂交显示为22号染色体部分三体。建议有胎儿异常的孕妇进行产前基因诊断，以确定胎儿是否患有22号染色体部分三体或其他罕见的染色体异常。
