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目的对148例9号染色体臂间倒位病例的临床表现进行分析。方法 19 374个样本进行染色体检查,其中8786个采用外周淋巴细胞培养G显带进行染色体核型分析(患者是不孕不育、不良孕育患者、需要亲代与子代配合检查者)。其中10 588个系羊水细胞染色体核型分析(孕中期孕妇)。结果 8786个样本中发现9号染色体臂间inv(9)83例,检出率0.9%。其中复发性流产28例、月经失调17例、继发不育11例、闭经9例、子宫发育不良5例、原发不育4例、无精子2例、严重少精子1例、亲代与子代均为inv(9)4例、患者夫妇均为inv(9)2例。10 588例羊水细胞中检出inv(9)65例,检出率0.6%。结论 inv(9)在不孕、不育、流产、月经失调、子宫发育不良患者中显著高于普通人群,而且inv(9)可以遗传给子代。孕妇的羊水细胞检出inv(9)预示可能导致胎儿畸形。9号染色体倒位有一定的临床意义。
Objective To analyze the clinical manifestations of 148 cases of intercalation between 9 arm chromosomes. METHODS: Totally 19 374 samples were tested for chromosomal abnormality. Among them, 8786 peripheral blood lymphocytes cultured with G banding were used for karyotype analysis (patients were infertile and poorly fertile, and parents and offspring were required to check with them). Of which 10 588 amniotic fluid cell chromosome karyotype analysis (second trimester pregnant women). Results Among 8786 samples, 83 (9) inv (9) were found on chromosome 9, with a detection rate of 0.9%. Among them, 28 cases of recurrent spontaneous abortion, 17 cases of menstrual disorders, 11 cases of secondary infertility, 9 cases of amenorrhea, 5 cases of uterine dysplasia, 4 cases of primary infertility, 2 cases of azoospermia, 1 case of severe oligospermia, On behalf of the inv (9) 4 cases, the patients were inv (9) 2 cases. In 588 cases of amniotic fluid cells detected inv (9) 65 cases, the detection rate of 0.6%. Conclusion Inv (9) is significantly higher than the general population in infertility, infertility, miscarriage, menstrual disorders and uterine dysplasia, and inv (9) can be passed on to offspring. Detection of amniotic fluid cells in pregnant women inv (9) predicts possible fetal abnormalities. Inversion of chromosome 9 has some clinical significance.