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苏州市妇幼保健院于１９８５１９９８ 年３ 月对１２６９ 例外周血淋巴细胞作染色体检查，查出异常核型１３２ 例，异常检出率１０．４０％ 。其中常染色体异常５３ 例占４０．１５％ 、性染色体异常７９ 例占５９ ．８５％ ；单纯数目异常８５ 例占６４．３９％ 、结构异常３０ 例占２２ ．７３ ％ 、嵌合型６ 例占４．５５％ 、性别倒错１１ 例占８．３３％ 。按疾病分类：克氏综合征５１ 例（ 标准型５１ 例） ；唐氏综合征２４ 例（标准型２１ 例，嵌合型２ 例，易位型１ 例）；吐纳氏综合征１４ 例（ 标准型７ 例，嵌合型３ 例，Ｘ 畸变４ 例；染色体易位１４ 例（ 平衡易位７ 例，罗伯逊易位６ 例）；４６，ＸＹ女性７ 例，４６，ＸＸ 男性４ 例；１８ 三体３ 例；臂间倒位３ 例；４６ ，ＸＸ（Ｙ） ，１０ｐ ＋ ３例；４７ ，ＸＸＸ２ 例；４６，ＸＹ，２２Ｓ＋ ２ 例；４７，ＸＸ（Ｙ）＋ ｍａｒ２ 例；４６，ＸＹ，１４ｐ ＋１ 例；４６ ，ＸＹｑ－１ 例；４６ ，ＸＸｄｅｌ（４）１ 例。
Suzhou City Maternal and Child Health Hospital in March 1985 March 1998 on 1269 cases of peripheral blood lymphocytes for chromosomal examination found 132 cases of abnormal karyotype, the abnormal detection rate of 10.40%. Including autosomal abnormalities in 53 cases accounted for 40.15%, 79 cases of sex chromosome abnormalities accounted for 59. 85%; simple number of abnormal 85 cases accounted for 64.39%, 30 cases of structural abnormalities accounted for 22. 73%, chimeric 6 cases accounted for 4.55%, gender inverted 11 cases accounted for 8.33%. According to the disease classification, 51 cases of Klinefelter syndrome (51 cases of standard type), 24 cases of Down syndrome (21 cases of standard type, 2 cases of chimerism and 1 case of translocation), and 14 cases of Thompson’s syndrome 7 cases of standard type, 3 cases of chimerism, 4 cases of X distortion, 14 cases of chromosomal translocation (balanced translocation in 7 cases, Robertson translocation in 6 cases); 46, XY female in 7 cases, 46 and XX male in 4 cases; 18 Three cases of three cases; arm internation in 3 cases; 46, XX (Y), 10p + 3 cases; 47, XXX2 cases; 46, XY, 22S + , 14p +1 cases; 46, XYq-1 cases; 46, XXdel (4) 1 case.