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本文所报告的五例患者,均为9号染色体臂间倒位的携带者,均有分娩低能儿、畸形儿的病史。因9号染色体有高度重排的倾向性,故在常染色体畸变中较多见。这些携带者表型正常,其遗传学效应突出的表现是流产、死胎、畸胎,神经管畸形。其机理是由于倒位的染色体本身断裂,片断180°倒转重新粘合而成。并且在细胞减数分裂连锁与交换过程中,断点受损产生剂量效应和位置效应,产生变异的生殖细胞,进而导致新的异常个体出现,值得注意的是四例染色体畸变类型相同而导致的临床表现均为神经系统有关的畸形,这中间的关系有待进一步研究。
Reported in this article, five patients, all on chromosome 9, the carriers of the inversion in the arm, have low birth weight children, deformed children’s history. Due to the high rearrangement of chromosome 9 tendencies, it is more common in autosomal aberrations. The phenotype of these carriers is normal, and their prominent genetic effects are miscarriage, stillbirth, teratogenicity and neural tube defects. The mechanism is due to the rupture of the chromosome itself, the reversion of 180 ° pieces re-bonded together. And in the process of meiotic linkage and exchange of cells, the breakpoint is impaired to produce dose effect and position effect, resulting in mutated germ cells, which leads to the emergence of new abnormal individuals. It is noteworthy that the four types of chromosomal aberrations caused by the same type Clinical manifestations are nervous system-related deformities, the middle of the relationship to be further studied.