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产前诊断45，X／46，X，i（X）（q10）嵌合型Turner综合征一例

李艳,崔伟,陶华娟

Chinese Journal of Medical Genetics（2014）

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Abstract
孕妇 女,34岁,G3P1L1.2005年曾足月剖宫产下一女婴,体健.本次孕15+1周时,行彩超检查示双顶径2.9 cm,股骨长度1.9 cm,羊水深度3.5 cm,脊柱回音正常,胎心正常,胎盘后壁,颈后见透明层,厚约0.3 cm,建议直接进行羊水穿刺产前诊断.孕18+6周时来我科行羊水穿刺.同时应用X、Y染色体着丝粒探针行荧光原位杂交(fluorescence in situ hybridization,FISH)检测,FISH结果显示性染色体数目异常(图1),X单体信号和X二体信号分别为24和56个.
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