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咨询者 男,17岁,因其母亲32岁时患Huntington舞蹈病,38岁因病死亡,在其父亲的陪同下前来咨询他的患病风险。 该家系4代人中目前共有5人发病,4人已死亡,咨询者的外祖母35岁发病,49岁死亡,其大儿子39岁发病,目前44岁已丧失劳动能力,生活尚能自理;其女儿即咨询者的母亲,32岁发病,38岁死亡;咨询者外祖母的哥哥是患者,51岁死亡,但其7个子女目前均未发病。家系调查表见图1
The consultant, male, aged 17, was asked by his father about the risk of his illness as a result of her mother’s suffering from Huntington’s disease at age 32 and her death at the age of 38 years. There are currently 5 people in the family from 4 generations, 4 of whom have died. The consultant’s grandmother is 35 years old, 49 years old is dead, and her eldest son is 39 years old. At present, her 44-year-old has lost her ability to work and she can take care of her life. The daughter, the counselor’s mother, was 32 years old and died at 38 years old. The consultant grandmother’s brother was a patient and died at the age of 51, but none of his seven children were present. Family survey questionnaire shown in Figure 1