Abstract: 【Objective】 To analyze the association between chromosome karyotypes of Turner syndrome and their clinic characteristics. 【Method】 Informations of 31 Turner syndrome patients were analyzed by retrospective analysis in Liuzhou Maternal and Child Health Care Hospital from January 2007 to November 2011. 【Results】 The main clinical features were short stature and no secondary sexual characteristics or dysplasia in the age of puberty growth period,45,X was the common types of karyotype and their uterine and ovarian had poorer gonadal development than those with other karyotypes. 【Conclusions】 The clinic symptoms are obvious in children with Turner syndrome and the chromosome examination is necessary for female children with growth retardation or dwarf.

Key words: Turner syndrome, karyotype, children

摘要： 【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。

关键词: 儿童, Turner综合征, 染色体核型