Tian Hao, Shao Min-Jie, Yan Li-Ying, Qiao Jie
Center of Reproductive Medicine, Department of Obstetrics and Gynecology.
National Clinical Research Center for Obstetrics and Gynecology.
Zhonghua Nan Ke Xue. 2024 Jun;30(6):493-498.
To comprehensively analyze the numbers of involved chromosomes and breakpoints and the clinical phenotypes of the patients with complex chromosome rearrangement (CCR).
We selected 23 745 patients with abnormal fertility 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).
A total of 28 CCR carriers (0.118%) were detected among the 23 745 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 in 9 (32.14%), double translocation in 7 (25%) and special translocation in 12 (42.86%). CCR carrier-related chromosomes were all involved but chromosomes 12 and 19, while 2 and 5 were involved most frequently.
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.
全面分析复杂染色体重排（CCR）患者的受累染色体数目、断点及临床表型。
选取2011年至2015年在北京大学第三医院生殖医学中心就诊的23745例生育异常患者，采用G显带、C显带及荧光原位杂交（FISH）技术分析其外周血染色体核型。
在23745例生育异常患者中，共检测出28例CCR携带者（0.118%），其中男性18例，主要表现为无精子症或少弱精子症；女性10例，主要表现为不孕、复发性流产、胚胎停育及出生异常。28例CCR中，三联体重排9例（32.14%），双易位7例（25%），特殊易位12例（42.86%）。CCR携带者相关染色体中，除12号和19号染色体外均有累及，其中2号和5号染色体累及最为频繁。
目前，CCR的发病率较低。CCR携带者常因生殖问题被发现，其生育正常婴儿的几率较低，因此需要采用植入前基因检测来提高活产率。由于CCR涉及的染色体和断点具有多样性，为每位CCR携带者提供精准的遗传咨询至关重要。
