染色体缺陷

  • 【医】chromosome deficiency
染色体缺陷染色体缺陷
  1. 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 .

  2. 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 .

  3. 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

  4. 《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 .

  5. 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 .