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1.病例:患者,女,4个月,查体:Down’s综合征面容及体征。心肺功能正常。细胞遗传学检查:取外周血常规制备染色体G显带,计数50个中期分裂相,核型分析10个,患儿核型为47,XX,-5,+der(5),+der(21),t(5;21)(q31;q22)。家系调查:患儿父母身体健康,智力表型正常,其母孕1产1,因为患者父母拒绝染色体检查,所以无法确定异常染色体是由父母遗传而来,还是新发生的突变。
1. Case: patients, female, 4 months, physical examination: Down’s syndrome face and signs. Cardiopulmonary function is normal. Cytogenetic examination: Peripheral blood was routinely prepared for chromosome G banding, counting 50 metaphase and karyotype analysis of 10 karyotype 47, XX, -5, + der (5), + der (21 ), t (5; 21) (q31; q22). Pedigree survey: Children with healthy parents and normal intelligence phenotype, whose mothers gave birth to 1, were unable to determine whether the abnormal chromosome was inherited by their parents or a new mutation because their parents rejected the chromosome test.