摘要目的:探讨涉及1例涉及5号、7号和14号染色体的复杂结构变异的发生机制及临床表现，并评估新型分子核型(C-MoKa)技术在其诊断和生育指导中的价值。方法:以2024年12月就诊于兰州大学第一医院生殖医学中心的一对同父异母的患儿作为研究对象。二人均在出生后表现为严重的多系统受累。对患儿父母进行外周血染色体核型分析，对患儿父亲进行新型分子核型(C-MoKa)检测，对患儿进行拷贝数变异测序(CNV-seq)。本研究通过了兰州大学第一医院的伦理审查(批准号：LDYYSZLLKH2025-05)。结果:患儿父亲的染色体核型为46，XY，add(5)(p15.3)。CNV-seq检测显示两名患儿均存在多处染色体异常，包括14号染色体和5号染色体的重复与缺失。C-MoKa进一步揭示患儿父亲存在复杂染色体结构变异，涉及5号、7号和14号染色体。这些变异与患儿的临床表型密切相关。结论:复杂染色体结构变异可能导致多系统异常，严重影响生殖健康。相较于传统的核型分析，C-MoKa技术在识别复杂染色体结构变异方面具有明显的优势。在临床诊断中联合运用多种技术可以提高诊断的准确性，从而为罹病家庭提供准确的遗传咨询，减少生育患儿的风险。

abstractsObjective:To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis.Methods:Two half-sibs by the same father presented at the First Hospital of Lanzhou University in December 2024 for severe multi-system abnormalities were selected as study subjects. Peripheral blood samples from the their parents were subjected to conventional chromosomal analysis. The father was further analyzed using C-MoKa, while both siblings underwent copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-05).Results:Conventional karyotype analysis indicated that the father has a karyotype of 46, XY, add(5)(p15.3). CNV-seq identified multiple chromosomal abnormalities in both siblings, including duplications and deletions of chromosomes 14 and 5. C-MoKa analysis further revealed a complex chromosomal structural variation involving chromosomes 5, 7, and 14 in the father. These variations were closely associated with the severe phenotypes noted in both children.Conclusion:Complex chromosomal structural variations can lead to multi-system abnormalities and significantly impact reproductive health. Compared to conventional karyotyping, the C-MoKa technique has shown significant advantage in identifying such complex rearrangements. The combined application of multiple techniques can improve the accuracy of diagnosis, enabling genetic counseling for carriers to reduce their risk for producing further affected offspring.