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45,X/46,X,+mar一例

邱显荣,崔娓,周玉球,林萃,苏文, 申瑶

Chinese Journal of Medical Genetics（2012）

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Abstract
患儿男,5岁,身高99 cm,体重15 kg.因矮小症就诊,有先天性心脏病史.查体:双侧睾丸于阴囊内探及,睾丸大小、形状正常,表面光滑,内部回声均质.彩色多普勒血流量显像(color doppler flow imaging,CDFI)检查:双侧睾丸未见明显异常血流信号.
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