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目的探讨X染色体结构与数目异常对性激素水平和个体发育的影响。方法通过外周血染色体核型分析,找出X染色体结构畸变、数目异常的个体,对他们进行激素水平的检测,然后再检查他们的身高、性腺发育、脏器发育、智力发育的水平,综合分析染色体核型、激素水平、个体发育水平的关系。结果我们找到45,X个体11人,47,XXX个体2人,47,XXY个体8人,嵌合体3人,X染色体结构异常5人,包括(易位3人,等臂2人),共29人,对他们的激素水平分别给与检测,生长发育进行了评估。结论这29人激素水平的变化,个体发育的变化,是由于X染色体结构与数目异常导致的。
Objective To investigate the effect of X chromosome structure and number anomalies on sex hormone levels and individual development. Methods According to the karyotype analysis of peripheral blood chromosomes, we found out the abnormalities of X chromosome and detected the number of abnormalities in them. Then we detected their hormone levels, gonadal development, organ development and intelligence development. Chromosome karyotype, hormone levels, the level of individual development. Results We found 45, X individuals 11, 47, XXX individuals 2, 47, XXY individuals 8 people, 3 chimeras, X chromosome abnormalities in 5 people, including (translocation 3, arm 2) 29 people, their hormone levels were given testing, growth and development were assessed. Conclusion The changes in hormone levels and individual development in these 29 individuals are due to the abnormalities in the structure and number of X chromosomes.