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染色体结构改变造成遗传物质的重新排列。若为非平衡型重排,则可导致异常表型。
Rearrangement — Chromosome breakage followed by reconstitution in an abnormal combination. If unbalanced, the rearrangement can produce an abnormal phenotype.
所有伴斜肌异常、分离性垂直斜视或眼球震颤者均见于斜视表型。
DVD, abnormal oblique muscle function and nystagmus were all observed in patients with strabismus.
染色体平衡易位携带者由于自身染色体是平衡的因此没有异常表型,但将导致不育、流产、死胎、畸胎、胎儿宫内和出生后生长缺陷。
Although the carriers of chromosomal balanced translocation have normal phenotypes they would lead to infertility, abortion of fetus, malformation of fetus and congenital defects after born.
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