英汉例句

• Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.

  胱氨酸病是以常染色体隐性方式遗传。

• Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.

  努南综合癥被定义为一种常染色体显性的遗传性综合癥，其一般特征为身材矮小、先天性心脏缺损、以及独特的面部特征。

• A disorder of lipid metabolism that is inherited as an autosomal recessive trait.

  油脂新陈代谢混乱的一种遗传病癥。

• Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.

  进行性家族性肝内胆汁淤积（PFIC）是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积癥。

• Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

  儿童型脊髓性肌萎缩癥是常见的遗传性神经肌肉病，为常染色体隐性遗传。

• Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

  方法：筛选出患长qt综合征1型的家庭成员，并鑒定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。

• Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.

  所查杯状耳均无耳聋病史及其它部位畸形。结论：杯状耳的形成是由父母双方中一方杯状耳基因决定的，家系分析显示为常染色体显性遗传。

• Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.

  家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。

• Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.

  遗传性嗜中性白血球减少癥是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。

• Conclusion: the essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.

  结论原发性高血压是由DNA损伤引起的人类表型缺陷，该病癥符合常染色体显性遗传，具延迟外显性。

• Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.

  AT M基因突变可导致共济失调毛细血管扩张癥(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。

• Conclusions: EBS-WC is an autosomal dominant genetic disorder with no special treatment. The diagnosis of this condition can be confirmed by the electron microscopy.

  结论：EBS - WC主要是常染色体显性遗传性疾病，目前尚无有效的治疗方法，确诊需依靠电镜检查。