特纳综合征(Turner syndrome,TS)是指表型为女性的患者,丢失一条(或部分)X染色体,并伴有矮身材和性幼稚、不育等卵巢功能衰竭表现。其他常见的畸形有:肘外翻、发际低、小下颌、多发色素痣、第四掌骨短小、高腭弓、颈濮、手足水肿、心血管畸形及肾脏畸形等。发病率约为1∶2500。有研究显示如家庭中已有一个TS患儿,则第二胎TS的发病率为1.4%(高出正常人群35倍)[1]。一、TS诊断及注意事项确诊须经染色体核型分析(至少需要观察30个细胞的核型),其中45%为单体型(45,X);20%~30%为嵌合型;其余为染色体结构异常(环状及Xq等位染色体等)[2]。下列两种特殊 Turner syndrome (TS) refers to the loss of one (or some) of the X chromosomes in women with a phenotype, and is associated with poor ovarian failure such as short stature and sexual maturity, and infertility. Other common deformities are: elbow valgus, hairline low, small jaw, multiple pigmented nevus, the fourth metacarpal short, high palatal arch, neck Pu, hand and foot edema, cardiovascular malformations and kidney malformations. The incidence is about 1: 2500. Studies have shown that if there is already a TS in the family, the incidence of TS in the second child is 1.4% (35 times higher than in the normal population) [1]. First, the TS diagnosis and precautions to be confirmed by karyotype analysis (at least 30 cells to observe the karyotype), of which 45% haplotype (45, X); 20% to 30% for the chimeric; the rest Chromosome structural abnormalities (ring and Xq alleles, etc.) [2]. The following two special