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9号染色体部分单体综合征1例

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摘要 临床资料 患儿,女,6个月,因左手通贯掌,方形头,小耳,眼球凸出不追物,颈无力,抬头不能,鼻梁稍塌,鼻孔朝天,外睑裂上斜,颌小,眼距稍宽,四肢肌张力高就诊。患儿为第2胎足月剖宫产,无宫内及新生儿窒息史。行外周血染色体检查,染色体核型分析46, XX,del(9)(p22),其核型分析见图1。父母表型、智力正常,身体健康,非近亲婚配。母亲无流产史,孕期无感染史,未接触化学药物及放射线。患儿姐姐表型及智力发育正常,父母及祖父母拒绝做染色体检查。
出处 《中国生育健康杂志》 2014年第5期473-473,共1页 Chinese Journal of Reproductive Health
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