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为了确定两例细胞遗传学提示染色体结构异常的核型 ,应用通过显微切割技术构建的人类18号和7号染色体探针池 ,分别对这两例病例的中期分裂相进行染色体涂染 ,结合显带染色体 ,确定两者核型分别为46,XY,t(3;18)(q12;q21)和46,XX,dirins(1;7)(p3104;q34q36)。染色体涂染技术是染色体显带技术的重要补充和发展 ,为染色体结构异常提供了一种直观、准确的检测手段 ,在遗传咨询和产前诊断方面有重要作用。
To determine the karyotypes of two cytogenetics suggesting chromosomal structural abnormalities, chromosomes were stained and combined with the chromosomes of chromosome 18 and chromosome 7 of human chromosomes constructed by microdissection, respectively Chromosomes were identified, and the karyotypes were determined to be 46, XY, t (3; 18) (q12; q21) and 46, XX, dirins (1; 7) (p3104; q34q36), respectively. Chromosome painting technique is an important supplement and development of chromosome banding technique, which provides an intuitive and accurate detection method for chromosomal structural abnormalities and plays an important role in genetic counseling and prenatal diagnosis.