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5号染色体臂内倒位一家系二例 被引量:1

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摘要 患儿女,10岁,因身材矮小就诊。患儿为第1胎足月顺产,出生时父亲29岁、母亲27岁。父母为非近亲婚配,智力均正常,否认家族中有类似和其它遗传病。患者祖母身高150cm。祖父身高170cm。患儿查体:身高138cm,体重31k,眼距正常,耳位不低.腭弓正常.无伸舌样痴呆,甲状腺不大,后发髻不低,无肘外翻,无通贯手,智力正常,乳房开始正常发育。查骨龄示:此患儿骨龄相当于9~11岁,基本符合实际年龄。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2010年第4期405-405,共1页 Chinese Journal of Medical Genetics
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