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.
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.
结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.
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。
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.
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。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
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.
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.
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。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
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.
CPAP的某些突变诱导神经发育紊乱疾病“常染色体隐性小脑畸形(MCPH)”导致人类大脑生长的严重缩小。
Mutation of CPAP induces a neuro-developmental disorder named MCPH (autosomal recessive primary microcephaly) that causes a great reduction in brain growth in human.
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。
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。
Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
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