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多技术平台对1例Williams-Beuren综合征孕妇的遗传学诊断

穆卫红,彭园园,陈文琪,张静,曹琴英

Chinese Journal of Family Planning（2020）

Cited 0|Views26
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Abstract
1 临床资料 女,19岁,智力障碍,身材矮小,特殊面容:眼距宽、眶周丰满、鼻梁低平、鼻孔朝前、下颌小、牙齿参差不齐,拟诊WBS综合征.现第一胎孕28周,因产前超声检查示胎儿左心室强光斑,室间隔缺损0.24cm来本中心行产前诊断.孕期无特殊病史;丈夫表型正常.经沟通及风险告知后,签署羊水产前诊断知情同意书及BoBs检测同意书.
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