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1病例1.1患者,男30岁,现有一女孩5岁先心病、弱智,计划再次怀孕,夫妻双方来我院就诊,建议夫妻做染色体检查。细胞遗传学检查:取夫妇双方外周血细胞培养、常规收获制片、G显带分析:丈夫核型为46,XY,t(11;22)(q25;p13),妻子核型正常。后又检查5岁女孩染色体核型为47,XX,+der(22)t(11;22)(q25;p13)。
1 case 1.1 patients, male 30 years old, existing a girl 5 years old first heart disease, mentally handicapped, plans to be pregnant again, both husband and wife to our hospital, the proposed husband and wife do chromosomal examination. Cytogenetic examination: take both peripheral blood cell culture, routine harvest film, G banding analysis: husband karyotype 46, XY, t (11; 22) (q25; p13), wife karyotype normal. The 5-year-old girl was then examined for karyotype 47, XX, + der (22) t (11; 22) (q25; p13).