涉及七条染色体的复杂性染色体重排致男性不育一例

doi:10.12280/gjszjk.20250437

摘要/Abstract

摘要：

复杂性染色体重排（complex chromosomal rearrangement，CCR）是涉及2条或多条染色体上的至少3个断点的罕见染色体结构畸变，常导致生育障碍。报告1例涉及7条染色体复杂易位的男性不育病例，染色体核型分析显示46,XY,t(1;2)(p33;q34),t(3;21;4)(q13.1;q21;q13),t(13;15)(q31;q14)，基因组拷贝数变异检测未见明显异常，父母核型正常，提示患者为新发变异。该夫妇经3个周期植入前非整倍体检测均未获得可移植囊胚，最终通过供精体外受精-胚胎移植后获得子代。提示对超复杂CCR携带者，应在明确诊断的基础上提供全面遗传咨询，充分告知不同助孕策略的预后，并在面临助孕失败与供精决策时加强心理疏导，以缓解患者心理压力。同时，此例为人类染色体核型数据库增添了超复杂CCR新类型。

关键词: 不育，男（雄）性, 基因重排, 染色体畸变, 核型分析, 遗传咨询, 体外受精

Abstract:

The complex chromosomal rearrangement (CCR) is a group of rare structural abnormalities involving at least three breakpoints on two or more chromosomes, being frequently associated with reproductive failure. We report a case of male infertility involving a complex translocation of seven chromosomes. Karyotype analysis revealed 46,XY,t(1;2)(p33;q34),t(3;21;4)(q13.1;q21;q13),t(13;15)(q31;q14). Genomic copy number variation analysis did not show any significant abnormalities. Normal parental karyotypes indicated a de novo variant. Following three unsuccessful cycles of preimplantation genetic testing for aneuploidy, no transferable blastocysts were obtained. Ultimately, a successful pregnancy resulting in a live birth was achieved through donor sperm in vitro fertilization and embryo transfer. This case underscores that the carrier of ultra-complex CCR should receive comprehensive genetic counseling, be fully informed of the prognoses associated with different assisted reproductive strategies, and be provided with psychological support when facing treatment failure or considering donor gamete options. Furthermore, this case contributes a novel category of ultra-complex CCR to the human cytogenetic database.

Key words: Infertility, male, Gene rearrangement, Chromosome aberrations, Karyotyping, Genetic counseling, Fertilization in vitro

周军, 裴景亮, 庞海燕, 张茂翔, 田艳娅, 王桂玲. 涉及七条染色体的复杂性染色体重排致男性不育一例[J]. 国际生殖健康/计划生育杂志, 2026, 45(1): 23-27.

ZHOU Jun, PEI Jing-liang, PANG Hai-yan, ZHANG Mao-xiang, TIAN Yan-ya, WANG Gui-ling. A Case of Male Infertility Resulting from A Complex Chromosomal Rearrangement Involving Seven Chromosomes[J]. Journal of International Reproductive Health/Family Planning, 2026, 45(1): 23-27.

图/表 2

参考文献 15

[1]	Olszewska M, Stokowy T, Pollock N, et al. Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis[J]. Int J Mol Sci, 2020, 21(12):4559. doi: 10.3390/ijms21124559.
[2]	Sheth F, Shah J, Liehr T, et al. Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review[J]. J Assist Reprod Genet, 2025, 42(1):39-62. doi: 10.1007/s10815-024-03316-1.
[3]	Wang Y, Ke X, Liang X, et al. Successful pregnancy in a complex chromosomal rearrangement carrier using preimplantation genetic testing for structural rearrangements: A case report[J]. Medicine(Baltimore), 2025, 104(5):e41327. doi: 10.1097/MD.0000000000041327.
[4]	Eisfeldt J, Pettersson M, Petri A, et al. Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier[J]. Hum Genet, 2021, 140(5):775-790. doi: 10.1007/s00439-020-02242-3. pmid: 33315133
[5]	Giardino D, Corti C, Ballarati L, et al. De novo balanced chromosome rearrangements in prenatal diagnosis[J]. Prenat Diagn, 2009, 29(3):257-265. doi: 10.1002/pd.2215.
[6]	Batista DA, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases[J]. Am J Med Genet, 1994, 53(3):255-263. doi: 10.1002/ajmg.1320530311.
[7]	Pellestor F, Anahory T, Lefort G, et al. Complex chromosomal rearrangements: origin and meiotic behavior[J]. Hum Reprod Update, 2011, 17(4):476-494. doi: 10.1093/humupd/dmr010. pmid: 21486858
[8]	Pellestor F. Chromoanagenesis: cataclysms behind complex chromosomal rearrangements[J]. Mol Cytogenet, 2019, 12:6. doi: 10.1186/s13039-019-0415-7. pmid: 30805029
[9]	Liang Y, Xie Y, Kong S, et al. Complex Chromosomal Rearrangement Causes Male Azoospermia: A Case Report and Literature Review[J]. Front Genet, 2022, 13:792539. doi: 10.3389/fgene.2022.792539.
[10]	Belladelli F, Muncey W, Eisenberg ML. Reproduction as a window for health in men[J]. Fertil Steril, 2023, 120(3 Pt 1):429-437. doi: 10.1016/j.fertnstert.2023.01.014.
[11]	Fang H, Eacker SM, Wu Y, et al. Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies[J]. Genet Med Open, 2025, 3:103423. doi: 10.1016/j.gimo.2025.103423.
[12]	Michaelson-Cohen R, Murik O, Zeligson S, et al. Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements[J]. Mol Genet Genomics, 2022, 297(4):925-933. doi: 10.1007/s00438-022-01898-y.
[13]	Qu J, Li S, Yu D. Detection of complex chromosome rearrangements using optical genome mapping[J]. Gene, 2023, 884:147688. doi: 10.1016/j.gene.2023.147688.
[14]	Zou Y, Sui Y, Fu J, et al. The morphokinetic signature of human blastocysts with mosaicism and the clinical outcomes following transfer of embryos with low-level mosaicism[J]. J Ovarian Res, 2024, 17(1):10. doi: 10.1186/s13048-023-01324-w. pmid: 38195558
[15]	Dube L, Bright K, Hayden KA, et al. Efficacy of psychological interventions for mental health and pregnancy rates among individuals with infertility: a systematic review and meta-analysis[J]. Hum Reprod Update, 2023, 29(1):71-94. doi: 10.1093/humupd/dmac034.

活检日期	胚胎评级	拷贝数变异检测结果	检测结果
2023年12月	4BC	-21;del(3)(q13.31q29);dup(4)(q13.3q35.2)	不可移植
2024年3月	4BC	+4;dup(1)(p36.33p32.3);del(2)(q35q37.3);del(3)(q13.31q29);dup(13)(q12.11q31.3);del(15)(q11.2q14);del(21)(q11.2q21.1)	不可移植
2024年5月	4BB	+3;dup(1)(p36.33p32.3);del(2)(q35q37.3);del(4)(p16.3q13.3);del(21)(q21.1q22.3)	不可移植
	4BB	del(21)(q21.1q22.3);del(mosaic)(4)(p16.3q13.3)(49%)	不可移植
	4AC	dup(3)(p26.3q13.31);del(4)(p16.3q13.3);del(13)(q31.3q34);del(15)(q11.2q14)	不可移植

活检日期	胚胎评级	拷贝数变异检测结果	检测结果
2023年12月	4BC	-21;del(3)(q13.31q29);dup(4)(q13.3q35.2)	不可移植
2024年3月	4BC	+4;dup(1)(p36.33p32.3);del(2)(q35q37.3);del(3)(q13.31q29);dup(13)(q12.11q31.3);del(15)(q11.2q14);del(21)(q11.2q21.1)	不可移植
2024年5月	4BB	+3;dup(1)(p36.33p32.3);del(2)(q35q37.3);del(4)(p16.3q13.3);del(21)(q21.1q22.3)	不可移植
	4BB	del(21)(q21.1q22.3);del(mosaic)(4)(p16.3q13.3)(49%)	不可移植
	4AC	dup(3)(p26.3q13.31);del(4)(p16.3q13.3);del(13)(q31.3q34);del(15)(q11.2q14)	不可移植