通过染色体微阵列分析对胎儿进行产前诊断，该胎儿患有新发的不平衡易位 46,XX,der(11)t(8;11)(q24.13;q23.3)，伴有多发先天性异常，发现存在 Jacobsen 综合征相关的 11q 远端缺失和 8q 远端重复。
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
机构信息
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 Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2024 Nov;63(6):922-926. doi: 10.1016/j.tjog.2024.09.012.
OBJECTIVE
We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound.
CASE REPORT
A 41-year-old, gravida 2, para 1, woman underwent amniocentesis at 25 weeks of gestation because of intrauterine growth restriction, endocardial cushion defect, clenched hands, arthrogryposis, rocker bottom feet and craniosynostosis on fetal ultrasound. Amniocentesis revealed a karyotype of 46,XX,add(11)(q23.3). Array comparative genomic hybridization (aCGH) analysis of the DNA extracted from the uncultured amniocytes revealed the result of arr 8q24.13q24.3 × 3, 11q23.3q25 × 1. Analysis of FGFR2 revealed no mutation. The karyotype was 46,XX,der(11)t(8;11)(q24.13;q23.3). The parental karyotypes were normal. The pregnancy was subsequently terminated, and a dead malformed fetus was delivered with craniofacial dysmorphism of low-set malformed ears, depressed nasal bridge, hypertelorism, small mouth, clenched hands and rocker bottom feet. Cytogenetic analysis of the placenta revealed a karyotype of 46,XX,der(11)t(8;11)(q24.13;q23.3). aCGH analysis of the DNA extracted from the umbilical cord showed the result of arr 8q24.13q24.3 (126,302,369-146,280,020) × 3.0, arr 11q23.3q25 (120,469,928-134,868,407) × 1.0 [GRCh37] with a 19.978-Mb duplication of 8q24.13-q24.3 and a 14.398-Mb deletion of 11q23.3-q25 encompassing the genes of BSX, ETS1, FLI1 and ARHGAP32.
CONCLUSION
CMA is useful for detection of de novo chromosomal rearrangement in the fetus with multiple congenital anomalies on fetal ultrasound.
目的
我们通过染色体微阵列分析（CMA）对胎儿超声检查中存在多种先天性畸形的胎儿进行检测，发现一例雅各布森综合征与 11q 远端缺失和 8q 远端重复相关。
病例报告
一名 41 岁，孕 2 产 1 的女性，因宫内生长受限、心内膜垫缺损、紧握双手、关节挛缩、摇椅底足和颅缝早闭，在胎儿超声检查中进行了羊膜穿刺术。羊膜穿刺术显示核型为 46,XX，add(11)(q23.3)。从未培养的羊水细胞中提取的 DNA 的阵列比较基因组杂交（aCGH）分析显示结果为 arr 8q24.13q24.3×3, 11q23.3q25×1。FGFR2 分析未发现突变。核型为 46,XX，der(11)t(8;11)(q24.13;q23.3)。父母的核型正常。随后终止妊娠，产下一名面部畸形的死胎，具有低位畸形耳朵、鼻梁凹陷、眼距过宽、小口、紧握双手和摇椅底足。胎盘的细胞遗传学分析显示核型为 46,XX，der(11)t(8;11)(q24.13;q23.3)。从脐带中提取的 DNA 的 aCGH 分析显示结果为 arr 8q24.13q24.3(126,302,369-146,280,020)×3.0, arr 11q23.3q25(120,469,928-134,868,407)×1.0[GRCh37]，8q24.13-q24.3 有 19.978-Mb 重复，11q23.3-q25 缺失 14.398-Mb，包含 BSX、ETS1、FLI1 和 ARHGAP32 基因。
结论
CMA 可用于检测胎儿超声检查中存在多种先天性畸形的胎儿中新生染色体重排。
Zotero 插件