染色体罗伯逊易位患者细胞遗传学特征及不良孕产结局分析

doi:10.3760/cma.j.cn441417-20241218-12012

国际医药卫生导报 ›› 2025, Vol. 31 ›› Issue (12): 1989-1992.DOI: 10.3760/cma.j.cn441417-20241218-12012

染色体罗伯逊易位患者细胞遗传学特征及不良孕产结局分析

史晓惠　杨丽辉

西北妇女儿童医院医学遗传中心，西安 710000

收稿日期:2024-12-18 出版日期:2025-06-15 发布日期:2025-06-15
通讯作者: 杨丽辉，Email：2444385987@qq.com
基金资助:
陕西省卫生健康科研基金（2021D049）

Cytogenetic characteristics and adverse pregnancy outcomes in patients with chromosome Robertsonian translocation

Shi Xiaohui, Yang Lihui

Medical Genetics Center, Northwest Women's and Children's Hospital, Xi'an 710000, China

Received:2024-12-18 Online:2025-06-15 Published:2025-06-15
Contact: Yang Lihui, Email: 2444385987@qq.com
Supported by:
Shaanxi Provincial Health and Wellness Research Fund (2021D049)

摘要/Abstract

摘要：

目的　分析染色体罗伯逊易位患者细胞遗传学特征及其与不良孕产结局之间的关联。方法　采用回顾性分析，选取2021年5月至2024年5月在西北妇女儿童医院遗传咨询门诊就诊的98例罗伯逊易位患者的临床资料，其中女56例（57.14%）、男42例（42.86%），年龄（31.22±5.27）岁。统计患者的细胞遗传学检测结果以及不良孕产史（自然流产、死胎、胎儿畸形）发生情况，分析罗伯逊易位类型与不良孕产史的关系。采用χ²检验或Fisher确切概率法进行统计比较。结果　98例罗伯逊易位患者中，共记录妊娠次数256次，自然流产发生158次（61.72%），其中早期流产（<12周）120次（46.88%）、晚期流产（≥12周）38次（14.84%）；死胎12次（4.69%），胎儿畸形10次（3.91%）。罗伯逊易位类型以t（13；14）（q10；q10）、t（14；21）（q10；q10）为主，分别占61.22%（60/98）、20.41%（20/98），其他类型有t（21；21）（q10；q10）、t（13；15）（q10；q10）、t（13；21）（q10；q10）、t（14；15）（q10；q10），分别占6.12%（6/98）、5.10%（5/98）、4.08%（4/98）、3.06%（3/98）；t（14；21）（q10；q10）、t（21；21）（q10；q10）患者的胎儿畸形率均高于t（13；14）（q10；q10）（均P<0.05），t（21；21）（q10；q10）患者死胎率高于t（13；14）（q10；q10）（均P<0.05）；8次胎儿21三体综合征中，涉及t（14；21）患者6例、t（21；21）患者2例；2次胎儿多发性畸形均涉及t（13；14）。结论　罗伯逊易位中，t（14；21）（q10；q10）和t（21；21）（q10；q10）型易位与较高的不良孕产结局如死胎、胎儿畸形，尤其是21三体综合征的发生风险密切相关。

关键词:

罗伯逊易位, 染色体畸变, 细胞遗传学, 核型分析, 不良孕产结局

Abstract:

Objective　To analyze the cytogenetic characteristics of patients with chromosome Robertsonian translocation (RT) and the association with adverse pregnancy outcomes. Methods　The clinical data of 98 patients with RT who were treated in the genetic counseling clinic of Northwest Women's and Children's Hospital from May 2021 to May 2024 were retrospectively analyzed. There were 56 females (57.14%) and 42 males (42.86%). They were (31.22±5.27) years old. The patients' cytogenetic test results and occurrence of adverse pregnancy history (spontaneous abortion, stillbirth, and fetal malformation) were counted. The relationship between RT types and adverse pregnancy history was analyzed. χ² test or Fisher's precision probability test was used for the statistical comparisons. Results　Among the 98 patients, 256 times of pregnancies were recorded, including 158 times (61.72%) of spontaneous abortion [120 times (46.88%) of early abortion (<12 weeks) and 38 times (14.84%) of late abortion (≥ 12 weeks)], 12 times (4.69%) of stillbirth, and 10 times (3.91%) of fetal malformation. The patients' RT types mainly were t(13;14)(q10;q10) and t(14;21)(q10;q10), accounting for 61.22%(60/98) and 20.41%(20/98), respectively; and other types included t(21;21)(q10;q10), t(13;15)(q10;q10), t(13;21)(q10;q10), and t(14;15)(q10;q10), accounting for 6.12% (6/98), 5.10% (5/98), 4.08% (4/98), and 3.06% (3/98), respectively. The fetal malformation rates of the patients with t(14;21)(q10;q10) and t(21;21)(q10;q10) were higher than that of the patients with t(13;14)(q10;q10) (both P<0.05); the stillbirth rate of the patients with t(21;21)(q10;q10) was higher than that of the patients with t(13;14)(q10;q10) (P<0.05). Among the 8 cases of fetal trisomy 21 syndrome, t(14;21) involved in 6 patients, and t(21;21) in 2 patients. t(13;14) were involved in 2 cases of multiple fetal malformations. Conclusion　RT, especially t(14;21)(q10;q10) and t(21;21)(q10;q10) ectopia, is closely related to the higher risk of adverse pregnancy outcomes, such as stillbirth and fetal malformation, especially the occurrence of trisomy 21 syndrome.

Key words: Robertsonian translocation, , Chromosome aberration, , Cytogenetics, , Karyotype analysis, , Adverse pregnancy outcomes

史晓惠　杨丽辉. 染色体罗伯逊易位患者细胞遗传学特征及不良孕产结局分析 [J]. 国际医药卫生导报, 2025, 31(12): 1989-1992.

Shi Xiaohui, Yang Lihui.

Cytogenetic characteristics and adverse pregnancy outcomes in patients with chromosome Robertsonian translocation [J]. International Medicine and Health Guidance News, 2025, 31(12): 1989-1992.

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染色体罗伯逊易位患者细胞遗传学特征及不良孕产结局分析

Cytogenetic characteristics and adverse pregnancy outcomes in patients with chromosome Robertsonian translocation

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