• 一种类的染色体遗传病。

    Dermoid sinus is a genetic, autosomal skin condition in dogs.

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  • 胱氨酸病是以常染色体隐性方式遗传。

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

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  • 属于关于染色体的。

    Of or relating to an autosome.

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  • 据报道很少一部分为染色体隐性遗传型。

    Rare autosomal recessive inheritance has also been described.

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  • 由于染色体出现突变基因导致疾病

    A disease caused by the presence of two recessive mutant genes on an autosome.

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  • 染色体隐性遗传剩下系样本太少,难以预测;

    Autosomal recessive inheritance was difficult to be evaluated because of few families remained.

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  • 结果IEP符合多基因遗传主要常染色体隐体遗传。

    Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders.

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  • 丑角鱼鳞常染色体隐性遗传性鱼鳞病严重亚型

    Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

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  • 因为染色体隐性遗传所以它在家族中的发病率25%。

    The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.

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  • 单倍体常染色体显示欧亚大陆乌拉尔语言为母语连续的。

    Haploid and autosomal variation within a linguistic continuum of the Uralic-speaking people of Eurasia.

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  • 结果显示各类序列进化水平沿常染色体呈现明显非均匀性规律性

    The results show that the evolution levels of each kind of sequences along chromosomes take on obvious heterogeneity and regularity.

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  • 结果:①ATD一种少见常染色体隐性遗传性软骨发育不良疾病

    Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.

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  • 方法常染色体显性多囊肾疾病行胚胎植入前遗传学诊断提供依据

    It provide an evidence of using this technique for the PGD for ADPKD.

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  • 沉积性肌病细胞内脂肪沉积引起常染色体隐性遗传病

    Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

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  • 目的探讨合子定位法罕见染色体隐性遗传病致病基因精确定位中的作用

    Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.

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  • 该病常染色体隐性遗传,X-染色体关联,所以母亲基因携带者男性表现发病

    The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.

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  • 卷舌均为常染色体基因显性遗传,能卷舌和能尖舌型分别为显性性状

    The hereditary mode of rolling tongue or pointed tongue was the dominant heredity of single gene of autosome, and the can-rolling type or can-pointed type was the dominant character.

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  • 可能均为常染色体基因遗传,利手叠腿右型分别为显性性状;

    The hereditary mode of handedness or folding leg was likely the dominant heredity of single gene of autosome, and the right type of them was the dominant character.

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  • 遗传性无纤维蛋白原血症一种由于纤维蛋白原基因缺陷所致染色体隐性遗传病。

    Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.

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  • 聋哑常染色体隐性遗传病通过遗传分析发现,减少防止近亲结婚可以降低聋哑人出生

    It is a recessive hereditary disease of autosome to be deaf and dumb. it was analysed through heredity that reducing or preventing consanguineous marriage can reduce the deaf-mute's birth rate.

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  • 进行性家族性内胆汁淤积(PFIC常染色体隐性遗传细胞源性儿童胆汁淤积症。

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

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  • 雌性个体中,遗传功能失活的复制x染色体染色,可以常染色体以及一条X染色体鉴别

    In female individuals a late replicating X chromosome which genetically was inactive slightly stained and could be discriminated from the autosomes and other X chromosome.

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  • 目的研究华东地区汉族人染色体显性遗传性多囊肾病(adpkd)基因临床表现型关系

    Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.

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  • 报道了一个遗传性小眼调查结果,该家系属于先天性睑裂狭小综合症,为染色体显性遗传

    An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.

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  • 目的研究常染色体显性遗传型多囊肾病肾组织细胞外基质多囊蛋白-1表达囊肿发生的关系

    Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.

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  • 结论原发性高血压DNA损伤引起人类表型缺陷病症符合染色体显性遗传,具延迟外显性。

    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.

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  • 结果表明染色体联会复合体相对长度和着丝点指数体细胞染色体的相应参数具有很好的吻合性。

    It is shown that the mean relative lengths and centromeric indices of autosomal SCs agree closely with those of mitotic chromosomes.

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  • 结论EBS - WC主要染色体显性遗传性疾病,目前尚无有效治疗方法确诊依靠电镜检查。

    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.

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  • 目前研究发现此病三种遗传方式:即母源第7染色体单亲双体染色体显性遗传及常染色体隐性遗传。

    At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.

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  • 遗传性嗜中性白血球减少一种常染色体隐性遗传疾病疾病导致成体中性粒细胞无法骨髓迁移血液中。

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

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