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.
双胎癫痫符合率的研究及家系脑电图的研究都提示癫痫性素质为常染色体显性遗传，且在5 ~15岁之间外显率最高。
Consistent with the rate of twin studies of epilepsy and EEG in family studies suggest epileptic quality as autosomal dominant, and in 5 to 15 years old explicit rate is highest.
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。
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.
遗传出血性毛细血管扩张症为常染色体显性遗传病，临床少见，本文就其病理变化、临床特点进行讨论，探讨其治疗方法。附一家系25例分析。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
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.
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.
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.
应用推荐