通过染色体微阵列分析，产前诊断胎儿患有与远端 11q 缺失和远端 8q 重复相关的雅各布森综合征，该胎儿患有 46,XX,der(11)t(8;11)(q24.13;q23.3)新发不平衡易位和胎儿超声检查发现多种先天性畸形

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-10-29 DOI:10.1016/j.tjog.2024.09.012

Chih-Ping Chen , Jian-Pei Huang , Fang-Tzu Wu , Peih-Shan Wu , Yen-Ting Pan , Chen-Chi Lee , Wen-Lin Chen , Wayseen Wang

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引用次数: 0

摘要

目的我们通过染色体微阵列分析（CMA）对一名在胎儿超声检查中伴有多种先天性畸形的胎儿进行了雅各布森综合征的产前诊断。病例报告一位 41 岁、孕 2 期、产 1 期的妇女，因胎儿超声检查发现宫内生长受限、心内膜垫缺损、双手紧握、关节发育不良、摇摆底足和颅骨发育不良，在妊娠 25 周时接受了羊膜腔穿刺术。羊膜腔穿刺显示核型为 46,XX,add(11)(q23.3)。对未培养羊膜细胞提取的 DNA 进行阵列比较基因组杂交（aCGH）分析，结果显示 8q24.13q24.3 ×3、11q23.3q25 ×1。核型为 46,XX,der(11)t(8;11)(q24.13;q23.3)。父母的核型正常。随后，孕妇终止了妊娠，产下一个畸形死胎，畸形胎儿的颅面畸形表现为低位畸形耳、鼻梁下陷、前凸肥大、小口、双手紧握和摇摆底足。从脐带中提取的 DNA 的 aCGH 分析显示，8q24.13q24.3（126,302,369-146,280,020）×3.0，11q23.3q25（120,469,928-134,868,407）×1.0 [GRCh37]。0 [GRCh37]，8q24.13-q24.3 有 19.978-Mb 的重复，11q23.3-q25 有 14.398-Mb 的缺失，包括 BSX、ETS1、FLI1 和 ARHGAP32 等基因。

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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

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.

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.