Genetic analysis of carriers of complex chromosome rearrangement
10.13263/j.cnki.nja.2024.06.002
- VernacularTitle:复杂染色体重排携带者的遗传学分析
- Author:
Hao TIAN
1
;
Min-Jie SHAO
;
Li-Ying YAN
;
Jie QIAO
Author Information
1. 北京大学第三医院,妇产科生殖医学中心,北京 100191;北京大学第三医院,国家妇产疾病临床医学研究中心,北京 100191;北京大学第三医院,辅助生殖教育部重点实验室(北京大学),北京 100191;北京大学第三医院,北京市生殖内分泌与辅助生殖技术重点实验室,北京 100191;北京大学第三医院,女性生育力促进全国重点实验室,北京 100191
- Keywords:
complex chromosome rearrangement;
formation mechanism;
genetic counseling;
preimplantation genetic diagnosis
- From:
National Journal of Andrology
2024;30(6):493-498
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To comprehensively analyze the numbers of involved chromosomes and breakpoints and the clinical phe-notypes of the patients with complex chromosome rearrangement(CCR).Methods:We selected 23 745 patients with abnormal fer-tility seeking medical care in the Center of Reproductive Medicine of Peking University Third Hospital from 2011 to 2015,and analyzed their peripheral blood chromosomal karyotypes using G-banding,C-banding and fluorescence in situ hybridization(FISH).Results:A total of 28 CCR carriers(0.118％ )were detected among the23 745 patients with abnormal fertility,including 18 males mainly with azoospermia or oligoasthenospermia and 10 females mainly with infertility,recurrent abortion,embryo termination and abnormal birth.Of the 28 cases of CCR,tripartite rearrangement was found in9(32.14％ ),double translocation in7(25％ )and special transloca-tion in 12(42.86％ ).CCR carrier-related chromosomes were all involved but chromosomes 12 and 19,while 2 and 5 were involved most frequently.Conclusion:At present,the incidence of CCR is low.CCR carriers with normal phenotypes are often found because of reproductive problems,and their low chance of having a normal baby necessitates the use of preimplantation genetic test to improve the rate of live birth.Due to the diversity of the chromosomes and breakpoints involved in CCR,it is crucial to give each CCR carrier precise genetic counseling.
