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1病例患者,女,35岁,汉族,身高162cm,体重51kg,职业农民,表型无异常,非近亲婚配,否认家族遗传史。孕期及孕前期无毒物、化学、放射物的接触史,无特殊病史。因连续流产4次而就诊。细胞遗传学检查:取外周血淋巴细胞培养常规制备染色体,G显带,普通核型计数,分析30个分裂相,均为46,XX,1qh+,t(7;8)(q32;q24)。为了进一步确诊及其避免检查时可能发生差错,又重新单独给其抽血复查,结果同前(如图1)。其丈夫核型正常,其他家庭成员拒绝检查。
A case of patients, female, 35 years old, Han nationality, height 162cm, weight 51kg, professional farmers, phenotypes anomalies, non-relatives of marriage, denied family genetic history. Pregnancy and pre-pregnancy non-toxic, chemical, radiation exposure history, no special history. Due to 4 consecutive abortion and treatment. Cytogenetic examination: Peripheral blood lymphocytes were routinely prepared for chromosome culture, G banding, and counting of common karyotypes. The 30 cleaved phases were analyzed for 46, XX, 1qh +, t (7; 8) (q32; q24). In order to further confirm the diagnosis and avoid possible errors in the inspection, but also to re-separate the blood for review, the results with the previous (Figure 1). Her husband’s karyotype is normal, and other family members refuse to check.