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淮安妇保院发现两例世界首报染色体异常核型

2015-01-14 张春雷 梁中亚 程守勤 医学论坛网

染色体异常
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讯(通讯员张春雷 梁中亚 记者程守勤)近日，江苏省淮安市妇幼保健院医学遗传中心发现了两例罕见的人类染色体异常核型，经中国医学遗传学国家重点实验室夏家辉院士等权威人士鉴定为“世界首报核型”，并被收入中国染色体异常核型数据库。 据介绍，此两例患者为母女关系，女儿陈宝宝(化名)在该院出生时体重仅3.5斤，生长发育迟缓，喂养困难，更让人难过的是，陈宝宝面容异常，脑袋小、眼距宽、外眼角下斜、目光呆

近日，江苏省淮安市妇幼保健院医学遗传中心发现了两例罕见的人类染色体异常核型，经中国医学遗传学国家重点实验室夏家辉院士等权威人士鉴定为“世界首报核型”，并被收入中国染色体异常核型数据库。

据介绍，此两例患者为母女关系，女儿陈宝宝(化名)在该院出生时体重仅3.5斤，生长发育迟缓，喂养困难，更让人难过的是，陈宝宝面容异常，脑袋小、眼距宽、外眼角下斜、目光呆滞，而且下巴短、脖子短，还患有先天性心脏病。经该院医学遗传中心染色体核型分析发现，原来该女婴存在3号、8号衍生染色体。紧接着，该院又找来了陈宝宝的母亲周某(化名)，周某身体健康，但自幼重度智力低下，表情呆滞，面容苍老，无法与人正常交流。对她的检查结果，竟然发现她有5条染色体出现复杂异位。

该院医学遗传中心主任潘琼说，陈宝宝的染色体异常是从母亲那遗传来的，此前世界各地曾有染色体异位的病例报告，但类似此次5条染色体复杂异位的病例却极为罕见。


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    2016-02-16 mengli1984

    处处用心会有回报

    0

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    2015-07-20 12498f1em08(暂无昵称)

    #染色体异常#

    0

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    2015-01-16 新生儿张玉军

    #染色体#

    0