131例原发性闭经女性的细胞遗传学分析(含世界首报异常核型3例)  

Cytogenetic studies of 131 patients with primary amenorrhea (including three novel abnormal karyotypes)

作　　者：赵晓[1] 沈国民[1] 冯琦[1] 孙晓纲[1] 骆延[1] 

机构地区：[1]河南科技大学医学院医学遗传教研室,洛阳471003

出　　处：《遗传》2008年第8期996-1002,共7页Hereditas（Beijing)

摘　　要：原发性闭经是一种原因复杂的疾病,染色体异常则是发病的主要原因。通过对131例原发性闭经患者的外周血淋巴细胞染色体的G带核型分析,发现其中83例为正常女性核型,占63.36%;各种异常核型48例,占36.64%,其中包括3例世界首次报道的异常核型[46,X,t(X;1)(q22;p34);46,X,t(X;5;6)(p11.2;q35;q16);46,XX,t(4;9)(q21;p22),t(6;10)(p25;q25),t(11;14)(q23;q32)]。另外,将33例Turner’s综合征患者的主要异常体征及核型分布分别与Elsheikh等的报道进行比较,发现矮身材、蹼颈、后发迹低和肘外翻的发生率与文献资料存在显著差异,说明东西方Turner’s综合征患者临床体征的表现可能存在差异。通过对2例X-常染色体易位携带者的分析,认为Xp11.2和Xq22区域可能与原发性闭经有关。The reason for primary amenorrhea is very complicated. One of the main causes is chromosome anomalies. Karyotype analysis of 131 patients with primary amenorrhea using the G-banding technique revealed that 83 patients （63.36%） have a normal female karyotype, and 48 patients （36.64%） have abnormal karyotypes including three novel abnormal karyotypes [46,X,t（X;1）（q22;p34）; 46,X,t（X;5;6）（p11.2;q35;q16）; 46,XX,t（4;9）（q21;p22）,（6;10）（p25;q25）, t（11; 14）（q23; q32）]. In addition, when the clinical features and karyotypes of 33 Tumer＇s（TS） patients were compared with M.Elsheikh＇s data, significant differences were found in the proportion of short stature, webbed neck, low posterior hairline and cubitus valgus, which suggests that there are differences in clinical features of TS patients between westerner and eastemer. Karyotype analysis of two patients with X-autosome translocations indicated that Xpl 1.2 and Xq22 may be associated with primary amenorrhea.

关 键 词：原发性闭经 核型 综合征 复杂易位 

分 类 号：R711.5[医药卫生—妇产科学]