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患者,女,34岁。因连续3次早期自然流产于1987年1月就诊。体检:表型正常,心肺肝脾未见异常,外周血淋巴细胞培养,按常规方法制备染色体标本,经高分辨G显带证实,镜下观察50个中期分裂相,核型为:46,XX,dir ins(1;5)(1pter→1p32::5q13→5q11::1p32→1qter;5pter→5q11::5q13→5qter)(附图)无嵌合现象。其爱人表型,核型正常。流产组织未能作核型分析。讨论多年来细胞遗传学研究表明染色体异常是引起习惯性流产的主要原因之一。习惯性流产夫妇的染色体异常主要是易位,其中平衡易位携带者的频率占受检流产夫妇人数的1.8%,随着显带技术的不断发展,某些插入易位的病例陆续被发现,但较少见。我们
Patient, female, 34 years old. Because of three consecutive early spontaneous abortion in January 1987 treatment. Physical examination: normal phenotype, no abnormal heart, lung and spleen, peripheral blood lymphocyte culture, according to conventional methods for the preparation of chromosome specimens confirmed by high-resolution G-banding, microscopic observation of 50 metaphase, Karyotype: 46, XX , dir ins (1; 5) (1pter → 1p32 :: 5q13 → 5q11 :: 1p32 → 1qter; 5pter → 5q11 :: 5q13 → 5qter) (with photos) without chimerism. The lover phenotype, normal karyotype. Abortion group failed to make karyotyping. Discussion Cytogenetics studies over the years show that chromosomal abnormalities are one of the major causes of habitual abortion. Chromosomal abnormalities in habitual abortion couples are mainly translocations, of which the frequency of balanced translocations carriers accounted for 1.8% of the number of abortion abortion, with the continuous development of the banding technology, some cases of translocation were found, But rarer. we