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受检者夫妇婚后已流产4胎,每次均妊娠2个月左右。女26岁,身体健康,临床检查无器质性生殖器官异常。男29岁,亦身体健康无异常表型。夫妇双方均无烟酒过量及其它不良习惯,未接触过有害的理化环境,孕期也未用过特殊药物。临床医生建议进行染色体检查。经外周血培养,染色体G显带分析,确定女为正常女性核型46XX;男核型为46XYinv(9)(P1,1;q1,3)即确诊为9号染色体臂间倒位(见图1)。讨论:引起习惯性流产的原因有多种,其中由于夫妇双方的染色体数目或结构异常所致的只占一部分。染色体臂间倒位是一种典型的染色体结构异常,即某号染色体长臂
Subjects married couples have been aborted 4 fetuses, each about 2 months of pregnancy. Female 26 years old, good health, clinical examination without genital abnormalities. Male 29 years old, no abnormal health phenotype. Both husband and wife are non-alcoholic and other unhealthy habits, have not been exposed to harmful physical and chemical environment, have not used special drugs during pregnancy. Clinicians recommend chromosomal examination. By peripheral blood culture, chromosome G banding analysis to determine the female normal female karyotype 46XX; male karyotype 46XYinv (9) (P1,1; q1,3) that is diagnosed as chromosome 9 internucleus inversion (see Figure 1). Discussion: There are a variety of reasons for habitual abortion, of which only one is due to the number of chromosomes or structural abnormalities on both sides of the couple. Chromosome arm inversion is a typical chromosomal structural abnormalities, that is, a chromosome long arm