【摘 要】
：
目的 通过对230例身材矮小患儿进行细胞遗传学分析,探讨身材矮小与染色体异常的关系。方法 对230例身材矮小患儿进行G显带染色体核型分析,并结合Q显带、C显带及荧光原位
【机 构】
：
福建省厦门市妇幼保健院产前诊断中心361003CenterforHumanGen-etics,BostonUniversitySchoolofMedicine,Boston,USA
【出 处】
：
中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
论文部分内容阅读
目的 通过对230例身材矮小患儿进行细胞遗传学分析,探讨身材矮小与染色体异常的关系。方法 对230例身材矮小患儿进行G显带染色体核型分析,并结合Q显带、C显带及荧光原位杂交(fluorescence in situ hybridizat-ion,FISH)等方法对异常染色体核型进行检测。结果 检测表明,230例身材矮小患儿中染色体异常有23例,异常比例为10％。其中,属于Turner综合征的有18例,含有环状染色体异常结构的有3例(分别为4号、6号和15号环状染色体),其余两例分别为5号染色体倒位及10号染色体断臂三体。结论 染色体异常是引起身材矮小的重要原因之一,应用G带、Q带、C带及FI SH技术,精确诊断患者的染色体核型,可为临床的诊断和治疗提供医学遗传学依据。
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