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.
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