本文選題：特納綜合征 + 染色體��； 參考：《臨床薈萃》2017年08期

【摘要】：目的收集并分析Turner綜合征(turner syndrome,TS)患者的臨床資料,加強對TS患者臨床特征及染色體異常的認識。方法收集15例TS患者的病史,以及實驗室、影像學檢查結(jié)果。結(jié)果 15例TS患者中發(fā)現(xiàn)染色體核型4種,9例患者核型為45,X0,1例為46,XX/45,X0,4例為46,X,i(Xq),1例為46,X,inv(Xq)。初診年齡≤18歲的患者10例,其中8例身高在同齡女童身高第3百分位數(shù)以下,2例在第10百分位數(shù)以下。15例患者均存在不同程度的乳房及外陰發(fā)育異常,陰毛、腋毛均缺如。12例患者子宮發(fā)育異常;10例卵巢發(fā)育異常。12例患者雌二醇降低,卵泡刺激素、黃體生成素相對偏高。8例患者合并橋本甲狀腺炎,其中2例合并亞臨床甲狀腺功能亢進,1例合并Graves’甲亢,3例合并亞臨床甲狀腺功能減退,1例合并甲狀腺功能減退。5例肝功能異常;1例合并2型糖尿病。合并先天性心臟病-房間隔缺損1例;合并馬蹄腎1例。結(jié)論 TS患者染色體核型眾多,臨床體征各不相同,但均有生長發(fā)育遲緩及性腺發(fā)育不良的特征。
[Abstract]:Objective to collect and analyze the clinical data of patients with Turner syndrome (TS) and to enhance their understanding of the clinical features and chromosomal abnormalities. Methods the history, laboratory and imaging findings of 15 patients with TS were collected. Results the karyotype of 4 kinds of chromosomal karyotypes was found in 15 cases of TS. The karyotype of 9 cases was 45 X 0, 1 case was 46 X XXR 45 X 0 X 0, 4 cases were 46 X X IXQO, 1 case was 46 X X + involute XQ. Of the 10 patients with age 鈮，

本文編號：2024404