Hasegawa Yuri, Miura Shoko, Nagata Ai, Yoshiura Koh-Ichiro, Miura Kiyonori
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Cureus. 2025 Apr 30;17(4):e83275. doi: 10.7759/cureus.83275. eCollection 2025 Apr.
We report a rare case of a woman who had at least five pregnancies with full trisomy 21, despite being younger than 35 years. Chromosome testing was performed once on a newborn, three times on amniotic fluid, and three times on miscarriage samples. There were five cases of trisomy 21, one case of trisomy 16, and one case of a normal karyotype. Chromosome tests were performed on the patient and one of her partners to search for the cause, but they were found to be normal karyotypes. In addition, the patient and her parents' blood samples were collected and analyzed for whole-exome analysis (trio analysis), but the cause of the recurrent trisomy was unknown. The most likely cause of recurrent trisomy 21 was gonadal mosaicism in the patient.
我们报告了一例罕见病例，一名年龄小于35岁的女性至少有五次妊娠，胎儿均为21三体完全型。对一名新生儿进行了一次染色体检测，对羊水进行了三次检测，对流产样本进行了三次检测。其中有五例21三体，一例16三体，一例核型正常。对患者及其一名伴侣进行了染色体检测以寻找病因，但他们的核型均正常。此外，采集了患者及其父母的血样进行全外显子组分析（三联体分析），但反复出现三体的原因不明。21三体反复出现的最可能原因是患者存在性腺嵌合体。
