Chen Chih-Ping, Chen Chen-Yu, Chern Schu-Rern, Wu Peih-Shan, Chen Shin-Wen, Lee Chen-Chi, Chen Li-Feng, Wang Wayseen
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2020 Jan;59(1):130-134. doi: 10.1016/j.tjog.2019.11.021.
We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for ring chromosome 13 [r(13)], monosomy 13 and isodicentric ring chromosome 13 [idic r(13)] by amniocentesis.
A 24-year-old woman underwent amniocentesis at 23 weeks of gestation because of intrauterine growth restriction (IUGR) in the fetus. Amniocentesis revealed a karyotype of 46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) on cultured amniocytes revealed the result of arr 13q11q31.3 (19,436,286-92,284,309) × 1.85, arr 13q31.3q34 (92,288,514-115,107,733) × 1 [GRCh37 (hg19)], indicating a 22.82-Mb 13q31.3-q34 deletion and a 15-20% mosaicism for 13q11-q31.3 deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. The placental tissues had a karyotype of 46,XY,r(13)[18]/46,XY,-13,+mar[14]/45,XY,-13[8]. Polymorphic DNA marker analysis confirmed a maternal origin of the 13q deletion.
Fetus with mosaic r(13), monosomy 13 and idic r(13) may present IUGR on prenatal ultrasound, and fetoplacental cytogenetic discrepancy may exist under such a circumstance.
我们通过羊膜腔穿刺术呈现了环形13号染色体[r(13)]、13号染色体单体和等臂双着丝粒环形13号染色体[idic r(13)]嵌合体的产前诊断及分子细胞遗传学特征。
一名24岁女性因胎儿宫内生长受限（IUGR）在妊娠23周时接受了羊膜腔穿刺术。羊膜腔穿刺术显示核型为46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2]。父母的核型正常。对培养的羊水细胞进行的阵列比较基因组杂交（aCGH）显示结果为arr 13q11q31.3(19,436,286 - 92,284,309)×1.85，arr 13q31.3q34(92,288,514 - 115,107,733)×1 [GRCh37 (hg19)]，表明存在一个22.82 Mb的13q31.3 - q34缺失以及13q11 - q31.3缺失的15 - 20%嵌合体。随后终止了妊娠，分娩出一个面部畸形的畸形胎儿。胎盘组织的核型为46,XY,r(13)[18]/46,XY,-13,+mar[14]/45,XY,-13[8]。多态性DNA标记分析证实了13q缺失的母系来源。
具有r(13)、13号染色体单体和idic r(13)嵌合体的胎儿在产前超声检查中可能表现为IUGR，在这种情况下可能存在胎儿 - 胎盘细胞遗传学差异。
