皮窦是一种犬类的常染色体遗传病。
Dermoid sinus is a genetic, autosomal skin condition in dogs.
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.
属于或关于常染色体的。
据报道很少一部分为常染色体隐性遗传型。
Rare autosomal recessive inheritance has also been described.
由于常染色体上出现突变基因而导致的疾病。
A disease caused by the presence of two recessive mutant genes on an autosome.
常染色体隐性遗传因剩下的家系样本太少，难以预测；
Autosomal recessive inheritance was difficult to be evaluated because of few families remained.
结果IEP不符合多基因遗传，而主要为常染色体隐体遗传。
Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders.
丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
因为它是常染色体隐性遗传的，所以它在家族中的发病率是25％。
The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.
结果显示各类序列的进化水平沿常染色体呈现明显的非均匀性和规律性。
The results show that the evolution levels of each kind of sequences along chromosomes take on obvious heterogeneity and regularity.
结果：①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
该方法为常染色体显性多囊肾疾病行胚胎植入前遗传学诊断提供了依据。
It provide an evidence of using this technique for the PGD for ADPKD.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的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.
目的探讨纯合子定位法在罕见常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.
该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
卷舌和尖舌均为常染色体单基因显性遗传，能卷舌型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.
利手和叠腿很可能均为常染色体单基因遗传，利手右型和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.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
聋哑是常染色体隐性遗传病，通过遗传分析发现，减少或防止近亲结婚可以降低聋哑人的出生。
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.
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症。
Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.
在雌性个体中，遗传功能失活的晚复制x染色体淡染色，可以和常染色体以及另一条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.
目的：研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
报道了一个遗传性小眼症家系的调查结果，该家系属于先天性睑裂狭小综合症，为常染色体显性遗传。
An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
目的研究常染色体显性遗传型多囊肾病肾组织中细胞外基质和多囊蛋白-1的表达及与囊肿发生的关系。
Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.
结论原发性高血压是由DNA损伤引起的人类表型缺陷，该病症符合常染色体显性遗传，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.
结果表明，常染色体联会复合体的相对长度和着丝点指数与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.
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。
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.
目前研究发现此病有三种遗传方式：即母源第7号染色体单亲双体、常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.
遗传性嗜中性白血球减少症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。
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症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。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
应用推荐