The proband exhibits congenital severe sensorineural hearing loss, heterochromia iridis and facial freckles. 其他家系成员除一名仅表现为先天性耳聋外, 均表现为颜面、上肢雀斑和/或早白发。
Methods A proband patient experienced a chronic onset of chorea with dementia at the age of 30 years. 方法先症者为一49岁的男性病人，表现为进行性痴呆、舞蹈和精神异常，于病后17年死亡。
In contrast, direct DNA sequencing requires only a single sample from the proband. 相比之下，直接测序只需要被检测者的血样 。
Methods:The clinic data and the laboratory results were analyzed in the proband and the other people in the family. 方法:对先证者及其家族的临床资料、实验室检查进行分析。
Methods: Thyroid hormone was detected in total 13 persons including the proband and his 12 relatives. 方法:调查包括先证者3代家系成员共计13人,检测血清甲状腺激素。
In addition, one proband and her son were characterized with the syndrome of mitochondrial encephalomyopathy with lactic acidosis. 其中例 1及其儿子除患糖尿病外 ,还呈线粒体肌脑病伴乳酸酸中毒及中风样发作综合征表现。
