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在本室日常遗传咨询门诊中,发现一个较为罕见的散发性克汀病家系,其发病以及诊断治疗的过程均较为特殊,特提出报告与从事遗传咨询的临床工作者共同探讨。 1 病例与家系 3年前一对夫妇因生育史不良而来本室求诊。双方平日健康,非近亲结婚,已婚后6年生过2子均夭折。第1次妊娠时,男方23岁,女方25岁,足月顺产1男婴,出生体重3.75kg,生后哭声及一般状况好,母乳喂养,量足。于生后4～5天发现有“黄疸”伴有“脐疝”,黄疸
In our daily genetic counseling clinic, we found a relatively rare pedigree of pedigree, its pathogenesis and diagnosis and treatment process are more special, special report and clinicians engaged in genetic counseling to explore. A case and family 3 years ago, a couple due to poor reproductive history to our room. The two sides are healthy on weekdays and get married to non-relatives. Two children have died in 6 years after being married. The first pregnancy, the 23-year-old man, the woman 25 years old, full-term 1-year-old boy, birth weight 3.75kg, crying after birth and the general condition is good, breastfeeding, volume foot. 4 to 5 days after birth found that “jaundice” accompanied by “umbilical hernia”, jaundice