Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2022 May;61(3):528-531. doi: 10.1016/j.tjog.2022.03.024.
We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.
A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development.
High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line.
我们介绍了一例在羊膜穿刺术时发现的高水平嵌合体 45,X/46,X,idic(Y)(q11.2)病例，患者为 45,X[22]/46,X,idic(Y)(q11.2)[4]核型的妊娠，结局良好，且 45,X 细胞系逐渐减少。
一名 36 岁，孕 4 产 3 的女性，因高龄接受羊膜穿刺术，妊娠 17 周时进行。羊膜穿刺术显示核型为 45,X[22]/46,X,idic(Y)(q11.2)[4]。产前超声无异常，胎儿有正常的男性外生殖器。妊娠 20 周时再次进行羊膜穿刺术，第二次羊膜穿刺术显示核型为 45,X[24]/46,X,idic(Y)(q11.2)[3]。对未培养的羊水间期荧光原位杂交（FISH）分析显示，60%（62/103 个细胞）为 Y 缺失细胞。经过遗传咨询，父母决定继续妊娠，分娩出一名 3020 克的男性婴儿，身长 52 厘米，男性生殖器正常，无表型异常。脐带血、脐带和胎盘的核型分别为 45,X[20]/46,X,idic(Y)(q11.2)[20]、45,X[31]/46,X,idic(Y)(q11.2)[9]和 45,X[40]。1 个月时，尿细胞和口腔黏膜细胞的 FISH 分析分别显示为 11.5%（7/61 个细胞）和 13.6%（16/118 个细胞）的嵌合体 Y 缺失细胞。5 个月时，外周血核型为 45,X[9]/46,X,idic(Y)(q11.2)[31]。口腔黏膜细胞 FISH 分析未见异常 Y 缺失细胞（0/101 个细胞）。11 个月时，外周血核型为 45,X[5]/46,X,idic(Y)(q11.2)[35]。102 个口腔黏膜细胞的 FISH 分析未见异常信号。患儿情况良好，体格和精神运动发育正常。
在羊膜穿刺术时发现的高水平嵌合体 45,X/46,X,idic(Y)(q11.2)可与良好的结局和 45,X 细胞系的逐渐减少相关。
