常見例句The proband exhibits congenital severe sensorineural hearing loss, heterochromia iridis and facial freckles. 其他家系成員除一名僅表現(xiàn)為先天性耳聾外, 均表現(xiàn)為顏面、上肢雀斑和/或早白發(fā)。Methods A proband patient experienced a chronic onset of chorea with dementia at the age of 30 years. 方法先癥者為一49歲的男性病人,表現(xiàn)為進行性癡呆、舞蹈和精神異常,于病后17年死亡。In contrast, direct DNA sequencing requires only a single sample from the proband. 相比之下,直接測序只需要被檢測者的血樣 。Methods:The clinic data and the laboratory results were analyzed in the proband and the other people in the family. 方法:對先證者及其家族的臨床資料、實驗室檢查進行分析。Methods: Thyroid hormone was detected in total 13 persons including the proband and his 12 relatives. 方法:調查包括先證者3代家系成員共計13人,檢測血清甲狀腺激素。In addition, one proband and her son were characterized with the syndrome of mitochondrial encephalomyopathy with lactic acidosis. 其中例 1及其兒子除患糖尿病外 ,還呈線粒體肌腦病伴乳酸酸中毒及中風樣發(fā)作綜合征表現(xiàn)。 返回 proband