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复杂的染色体重排(CCR)足一种罕见的细胞遗传学异常,涉及到3个或更多的染色体重排,包括染色体的缺失,插入或倒位。目前,应用常规细胞遗传学及显带技术还很难对其进行准确地诊断。 患者G5P1,曾分别于12、14、20孕周发生自然流产,亦分娩过1健康男婴。流产组织(20孕周)的细胞遗传学分析显示出异常胎儿核型:46,XX,-5,-7,+der(5)t(5;7)(p15;q31),+der(7)t(7;11)(q31;q13)。此次妊娠第16周始接受产前检查,被确诊为涉及到5、7、11号染色体的CCR携带者,而其
Complex chromosomal rearrangements (CCRs) are a rare cytogenetic abnormality involving three or more chromosomal rearrangements, including chromosomal deletions, insertions or inversions. At present, it is still very difficult to diagnose accurately using conventional cytogenetics and banding techniques. In patients with G5P1, spontaneous abortion occurred on the 12th, 14th and 20th week of pregnancy respectively and 1 healthy baby boy was delivered. Cytogenetic analyzes of abortions (20 gestational weeks) showed abnormal fetal karyotypes: 46, XX, -5, -7, + der (5) t (5; 7) ) t (7; 11) (q31; q13). The first 16 weeks of gestation to accept prenatal care, was diagnosed with chromosome 5,7,11 CCR carriers, and its