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【目的】分析和探讨Turner综合征染色体核型与临床特征的关系。【方法】对31例自2007年1月-2011年11月期间来柳州市妇幼保健院儿童保健科生长发育专科就诊的确诊为Turner综合征患儿临床资料进行回顾性分析。【结果】Turner综合征患儿的临床表现主要为身材矮小、青春发育年龄无第二性征发育或发育不良等,最常见的染色体核型为45,X且该核型患儿子宫卵巢发育较其它核型差。【结论】Turner综合征患儿的临床表现各异,对因生长迟缓、矮小就诊的女性患儿进行染色体检查很有必要。
【Objective】 To analyze and discuss the relationship between chromosomal karyotype and clinical features of Turner’s syndrome. 【Methods】 The clinical data of 31 children diagnosed with Turner syndrome were retrospectively analyzed in 31 cases from January 2007 to November 2011 for the diagnosis and treatment of Turner syndrome in children’s health department of Liuzhou MCH hospital. 【Results】 The clinical manifestations of Turner syndrome in children are mainly short stature, age of secondary development without secondary sexual development or dysplasia, etc., the most common karyotype is 45, X and the karyotype of children with uterine ovarian development than those Other karyotype difference. 【Conclusion】 The clinical manifestations of children with Turner syndrome are different. It is necessary to carry out chromosomal examination in children with growth retardation and short stature.