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Turner氏综合征是先天性性腺发育不全症的一种形式,其特点是体矮,外生殖器幼稚,索条状性腺,并伴有先天性畸形。这种表型常见于45,X核型妇女,但也可出现于X染色体长臂或短臂缺失的病人。有人试图分析X染色体结构异常,以绘制出控制临床特征表现的基因图。但是,在Xq-病例中,核型/表型相关的解释是困难而有争论的,其原因之一可能是存在着嵌合性,另一个复杂的因素是在显带技术引入以前甚至其
Turner’s syndrome is a form of congenital azoospermia, which is characterized by body short, genital naive, cord-like gonads, and congenital malformations. This phenotype is common in 45, X-karyotype women, but can also occur in patients with missing or missing long arms on the X chromosome. Someone tried to analyze the X chromosome structure abnormalities, in order to draw a map of the performance of the control of clinical features. However, interpretation of karyotype / phenotype in Xq-cases is difficult and controversial, and one of the reasons for this may be the presence of chimerism. Another complicating factor is that even before the introduction of the banding technique