染色体缺陷

医生后来将她确诊为Prader-Willi综合症（PWS），一种由染色体缺陷引起的遗传病。

Doctors finally diagnosed her with Prader-Willi syndrome , a genetic disease caused by a chromosomal flaw .

瓜氨酸血症（Citrullinemia）是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。

Citrullinemia is an autosomal recessive inherited defect resulted in the urea cycle disorder in Holstein Dairy cattle .

X染色体异常及其基因缺陷在卵巢早衰发病机制中的研究

The abnormality and genetic disorders of X chromosome involved in premature ovarian failure

《柳叶刀》上发表的研究治疗的脉络膜缺失症是由X染色体的单一基因缺陷引起的，主要患者为男孩。

The ailment treated in the Lancet study , choroideremia , is caused by defects in a single gene on the X chromosome and mainly affects boys .

出生缺陷包括先天性畸形和先天性遗传性疾病，染色体异常是出生缺陷的重要因素，智力低下和生长发育异常是其共同特征。

Birth defects include the congenital abnormality , congenital hereditary disease and so on . The chromosome abnormality is the major reason of the birth defect newborn babies , and their common features are low intellectual function and abnormal development .