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患者,女,24岁,婚后2年余,自然流产2次,均为孕2个月流产。以往月经周期规则,其父智力正常,母亲24岁足月分娩患者以后未再孕;无近亲结婚和家属遗传史。体检及妇检均未发现异常。临床诊断:婚后连续两次自然流产原因待查。于1984年7月夫妇同时取外周血淋巴细胞培养及染色体G显带检查,结果:其丈夫核型为46XY正常男性核型,患者核型为46 XX t(2:9)(q~(2.1)q(3.4)(见附图)。实验室诊断:2号和9号染色体易位携带者。进一步检查其母亲的染色体结果与患者核型相同。证实患者异常染色体系由其母亲遗传而来。因患者的父亲及外祖母均已死亡,无法进一步家系调查。
The patient, female, 24 years old, more than 2 years after marriage, spontaneous abortion 2 times, all 2 months pregnant abortion. Menstrual cycle in the past rules, the normal her father’s intelligence, mother 24-month-old childbirth after no pregnancy; no close relatives married and their families genetic history. Physical examination and women were found no abnormalities. Clinical diagnosis: Two consecutive spontaneous abortion after marriage to be investigated. In July 1984, at the same time, the couple took peripheral blood lymphocyte culture and chromosome G banding examination. Results: The husband’s karyotype was 46XY normal male karyotype. The karyotype was 46 XX t (2: 9) (q ~ 2.1 ) q (3.4) (see attached) Laboratory Diagnosis: Carriers for chromosomes 2 and 9 translocations. Further examination of the mother’s chromosome results was identical to the patient’s karyotype, confirming that the patient’s abnormal chromosome was inherited by his mother Because of the death of the patient’s father and grandmother, unable to further family survey.