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一例一例综合猫眼一例猫眼综合征病例报道及遗传例报道及道及遗传学分

2019年 第03月 03 | [[;][[[]]]1;]2];;1;][2]]];;[[1][;[][][1];[1] 1茂名市1茂医院人民医院1茂名市人民诊断医院产前诊断2茂25名5东茂人民名市药剂中心药剂,广25东茂药剂25名5医院药剂药剂0025000 2茂名市人民茂名医院药剂茂名科,广东茂名525000

摘 要:目的:对一例猫眼目的:对综合征患一例猫眼传学分析儿进行遗综合征患的分子遗。方法 综合征患传学特征。方法 传学特征染色体微 显带染儿进行遗。方法 传学分析omal,以明确染色体微传学特征该综合征的分子遗传学特征。方法 分析、 采用 Groar分析。 采用 G色体核型 显带染roar色体核型分析、 染色体微roarCMA 阵列技术(Chr)对一例,CMAomos处发生一omalmar。, XX猫眼综合结果 该 Microar+, +行遗传学Anal3 发生ray mar。微重复,嵌合性的q11.760KysisAnalysis域与 Cmar。,CMA微重复,为 3,为 47)对一例 该猫眼ECR1猫眼综合8752征患儿进征患儿进处发生一行遗传学.21 分析。 结果 该8752患儿染色CMA 为 47 体核型q11.为 47mar。, XX因密切相贝数为 ,1qh+, +mar。 该猫眼.21 微重复,耳部异常CMA 显示染色为 3,耳部异常脏异常,耳部异常异常,肾体 22脏异常,q11.11.2q11.因密切相段长 11q11.21 处发生一段长 1760K 综合征脏异常,体的微重8752b 的微切相关,26,I重复,拷贝数为 4,在 22q11.1q11.2 号染色3 发生一段长 8752Kb 的嵌合性的微重复,为 3,拷贝数约为 3,此重复区域与 CECR1,PEX体的微重26,IL17RA 等基耳部异常因密切相关。结论 该猫眼 综合征异常,肾与 22 号染色体的微重复区域密切相关,切相关,主要表现为肛门闭锁,心脏异常,肾脏异常,耳部异常,语言发育迟缓等

【分 类】 【医药、卫生】 > 临床医学 > 护理学 > 护理学基础科学
【关键词】 染色体微阵列分析 先天性心脏病 肛门闭锁 猫眼综合征
【出 处】 2019年 第03月 03 367-368页 共2页
【收 录】 中文科技期刊数据库

【参考文献】
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