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一个26岁有反复流产史并有一个正常孩子的高加索妇女,由皮肤活检建立的细胞培养物。培养的细胞表明为第1号和第7号染色体短臂的末端之间的相互易位,染色体组成为46,XX,t(1;7)(1 ρter→1ρ34::7ρ13→7qter;7ρter→7ρ13::1ρ34→1q ter)。先证者的母亲,她的两个姊妹以及她的儿子均有这种同样的易位。所有易位的携带者,表型均正常。父亲的染色体核型也正常。这种易位已由胰蛋白酶—吉姆
A 26-year-old Caucasian woman with a history of recurrent abortion and a normal child, cell culture established by skin biopsy. The cultured cells showed reciprocal translocation between the ends of the short arms of chromosomes 1 and 7, with the chromosomal composition of 46, XX, t (1; 7) (1 ρter → 1 ρ 34 :: 7 ρ 13 → 7 qter; 7 ρter → 7ρ13 :: 1ρ34 → 1q ter). This same translocation occurs to both the mother of the proband, her two sisters and her son. All carriers of translocation, the phenotype are normal. My father’s karyotype is also normal. This translocation has been made by trypsin-Jim