Dermoid sinus is a genetic, autosomal skin condition in dogs.
皮窦是一种犬类的常染色体遗传病。
Rare autosomal recessive inheritance has also been described.
据报道很少一部分为常染色体隐性遗传型。
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。
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症。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
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。
Autosomal recessive inheritance was difficult to be evaluated because of few families remained.
常染色体隐性遗传因剩下的家系样本太少，难以预测；
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
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。
Haploid and autosomal variation within a linguistic continuum of the Uralic-speaking people of Eurasia.
单倍体和常染色体显示欧亚大陆的乌拉尔语言为母语的人是连续的。
Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders.
结果IEP不符合多基因遗传，而主要为常染色体隐体遗传。
The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.
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％。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
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。
An aneuploid state in which a third homologous chromosome is present in addition to the normal autosomal pair is called trisomy.
除了正常染色体对以外，还存在有第二种同源染色体的非整倍体状态，被称为三体性。
It is shown that the mean relative lengths and centromeric indices of autosomal SCs agree closely with those of mitotic chromosomes.
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。
We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis.
我们报告一拘束性皮肤病变的31周出生婴儿，其为一罕见的，体隐性遗传皮肤病。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
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。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
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。
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，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
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。
Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
克氏症仍是最常见的染色体疾病，染色体平衡易位核型占常染色体异常核型比例最大。
There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.
与遗传有关的先天性白内障有多种遗传方式，其致病基因、 基因突变的位点和引起先天性白内障的表现型相继被发现。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。
Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.
由于各种复杂因素的影响，常染色体显性遗传的杂合子有可能出现不同的表现型，本文阐述了常染色体显性遗传的几种类型。
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。
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症。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
目前根据遗传方式分为1型（常染色体显性）和2型（常染色体隐性） ，每一型根据不同基因缺陷又分为许多亚型。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发育异常性眼科疾病，遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
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。
Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.
努南综合症被定义为一种常染色体显性的遗传性综合症，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。
Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.
努南综合症被定义为一种常染色体显性的遗传性综合症，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。
应用推荐