5329例遗传咨询儿童细胞遗传学分析

摘要

Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all, abnormal karyotype were found in 1 723 cases (32.33％) , in which the numerical chromosome abnormalities were detected in 1 539 (89.32％) , following by 125 cases of structural chromosome abnormalities (7.25％) , 53 cases of sex reverse syndrome (3.08％) , and 6 cases of true hermaphroditism (0.35％). The chromosome polymorphism were detected in 228 cases (4.28％). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.%目的 分析遗传咨询儿童染色体核型, 探讨染色体异常与疾病的关系.方法 对5 329例遗传咨询儿童外周血染色体核型分析的结果进行回顾性研究分析.结果 共检出染色体异常核型1 723例, 检出率为32.33％;其中染色体数目异常1 539例 (占89.32％) 、染色体结构异常125例 (占7.25％) 、性反转53例 (占3.08％) 、真两性畸形6例 (占0.35％);另检出染色体多态性228例, 检出率为4.28％.结论 染色体数目异常仍是最常见的染色体畸变类型, 是导致智力低下、身材矮小及性发育异常等临床表型的重要原因之一.