【摘要】 本文对101例怀疑有染色体异常的患者进行了外周血淋巴细胞染色体分析,发现染色体异常者15例。检出率为14.85％。文中重点介绍了较罕见的4个病例。对染色体异常检出率、额外小染色体及平衡易位携带者进行了讨论。更多还原

【Abstract】 Chromosome of peripheral blood lymphocytes from 101 patients with suspectable chromosome abnormalities were studied. Fifteen patients were discovered to have chromosome abnormalities including Down’s syndrome 5 cases, small accessory chromosome (SAC) 1 case, Turner’s syndrome 3 cases, Klinefelter’s syndrome 1 case, Swyer’s syndrome 1 case, complete testicular feminization 1 case and balanced translocation 3 cases. The detective rate is 14. 85%. 4 typical cases are presented. Detective rate, small accessory chromosome and balanced translocation are discussed.更多还原