围产期生长受限但无明显结构异常的羊膜穿刺术胎儿r（10）和10单体嵌合的产前诊断和分子细胞遗传学特征

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-03-01 DOI:10.1016/j.tjog.2024.12.012

Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Meng-Shan Lee , Chen-Wen Pan , Wayseen Wang

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引用次数: 0

摘要

目的研究羊膜穿刺术中携带10p15.3微缺失和10q26.3微缺失的胎儿r（10）和10单体嵌合体的产前诊断和分子细胞遗传学特征。病例报告一名37岁，妊娠2期，第1段，妇女在妊娠17周时因母亲高龄行羊膜穿刺术。羊膜穿刺术显示核型为45、XX、−10[6]/46、XX、r(10)[6]。产前超声检查正常。她接受了遗传咨询，妊娠21周复查羊膜穿刺术，核型为46，XX,r(10)[5]/45，XX,-10[5]。亲本核型正常。对未培养羊膜细胞提取的DNA进行同步阵列比较基因组杂交（aCGH）分析，发现一个包含ZMYND11和DIP2C基因的2.182 mb 10p15.3缺失，以及一个位于DOCK1和EBF3基因外的2.257 mb 10q26.3缺失。产前超声显示宫内生长受限，未见明显结构异常。父母选择继续怀孕，并在妊娠40周分娩了一个2425克的婴儿，没有颅面畸形。脐带血核型为46、XX、r(10)[1]/ 45、XX、-10[9]/47、XX、r（10）、+r(10)[1]/46、XX[1]。4个月随访时，外周血核型为46、XX、r(10)[8] /45、XX、-10[8]，体重5.1 Kg（3百分位），身高58 cm（3百分位）。她没有颅面畸形。随访1岁零2个月时，体重5.9 Kg（3百分位），身高68.5 cm（3百分位）。她表现出运动和语言发育迟缓，但没有肌张力低下。颅脑ct及全身超声检查未见异常。结论产前诊断r（10）和10单体镶嵌现象与围产儿生长受限有关，但与总体结构异常无关。

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Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(10) and monosomy 10 at amniocentesis in a fetus associated with perinatal growth restriction but no gross structural abnormalities

Objective

We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(10) and monosomy 10 at amniocentesis in a fetus with a 10p15.3 microdeletion and a 10q26.3 microdeletion.

Case report

A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,XX, −10[11]/46,XX,r(10)[6]. Prenatal ultrasound was normal. She was referred for genetic counseling, and repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XX,r(10)[15]/45,XX,-10[5]. The parental karyotypes were normal. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 2.182-Mb 10p15.3 deletion encompassing the genes of ZMYND11 and DIP2C, and a 2.257-Mb 10q26.3 deletion outside the genes of DOCK1 and EBF3. Prenatal ultrasound showed intrauterine growth restriction but no gross structural abnormalities. The parents elected to continue the pregnancy, and a 2425-g baby was delivered at 40 weeks of gestation without craniofacial dysmorphism. The cord blood had a karyotype of 46,XX,r(10)[29]/45,XX,-10[9]/47,XX,r(10),+r(10)[1]/46,XX[1]. When follow-up at age four months, the peripheral blood had a karyotype of 46,XX,r(10) [32]/45,XX,-10[8], her body weight was 5.1 Kg (<3 centile), and body height was 58 cm (<3 centile). She did not have craniofacial dysmorphism. When follow-up at age one year and two months, her body weight was 5.9 Kg (<3 centile), and body height was 68.5 cm (<3 centile). She manifested motor and speech developmental delay but no hypotonia. Brain computed tomography and whole-body ultrasound examination showed no abnormalities.

Conclusion

Mosaicism for r(10) and monosomy 10 at prenatal diagnosis can be associated with perinatal growth restriction but no gross structural abnormalities.

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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.