【摘要】 目的 回顾性分析汉中市中心医院769例生长发育异常儿童外周血染色体G显带核型结果，探讨儿童染色体异常与临床表型的关系及异常核型的分布特点。方法 收集2019年1月至2025年3月769例儿童外周血染色体核型结果资料，结合其相关病历资料进行分析。结果 在769例受检儿童中检出染色体异常核型共34例，检出率为4.42%，其中染色体数目异常27例，检出率为3.51%，占异常核型构成比的79.41%；染色体结构异常7例，检出率为0.91%，占异常核型构成比的20.59%；染色体多态性30例，检出率为3.90%；检出3例46,XY(表型女性)，1例46,XX(表型男性)，1例46,XY[95]/46,XX[5](表型女性)。结论 染色体异常与儿童生长发育密切相关，染色体异常会导致儿童生长发育迟缓、智力障碍、性早熟等临床症状。更多还原

【Abstract】 Objective To retrospectively analyze the results of peripheral blood chromosome G-banding karyotypes in 769 children with abnormal growth and development at Hanzhong Central Hospital, and to explore the relationship between chromosomal abnormalities and clinical phenotypes in children, as well as the distribution characteristics of abnormal karyotypes. Methods Data from peripheral blood chromosome karyotype analysis of 769 children from January 2019 to March 2025 were collected and analyzed in conjunction with their relevant medical records. Results Among the 769 children examined, 34 cases of abnormal karyotypes were detected, with a detection rate of 4.42%. This included27 cases of chromosomal numerical abnormalities, with a detection rate of 3.51%, accounting for 79.41% of the abnormal karyotypes; 7 cases of chromosomal structural abnormalities, with a detection rate of 0.91%, accounting for 20.59%of the abnormal karyotypes. Chromosomal polymorphisms were found in 30 cases, with a detection rate of 3.90%. Three cases of 46,XY(phenotypic female), one case of 46,XX(phenotypic male), and one case of 46,XY[95]/46,XX[5](phenotypic female) were detected. Conclusion Chromosomal abnormalities are closely related to growth and development in children. Chromosomal abnormalities can lead to clinical symptoms such as growth retardation, intellectual disability,and precocious puberty in children.更多还原