染色体缺陷是指由于细胞分裂后期染色体发生不分离或染色体在体内外各种因素影响下发生断裂和重新连接导致的基因异常表达，进而形成机体缺陷。
这是一个X染色体缺陷导致的尿素循环酶缺乏症之一。
This is an X-linked deficiency of one of the enzymes in the urea cycle.
以往的研究者已经指出过，大龄孕妇生育的孩子极易患出生缺陷、出生体重低、类似先天痴呆的某些染色体疾病。
Prior studies have indicated that babies born to older women have higher risks of birth defects, low birth weight and certain chromosome problems, such as Down syndrome.
该项技术使医生可以检测妇女卵细胞中携带人类遗传密码的染色体的缺陷。
The technique allows doctors to check a woman's eggs for defective chromosomes, the structures that carry the human genetic code.
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