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Updated: Jul 29, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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9q21.13微删除综合征的新见解:28名患者的基因型-表型相关性

Alessandro De Falco1,2,3, Achille Iolascon1,2,3,4, Flora Ascione5

  • 1U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.

Genes
|May 27, 2023
PubMed
概括

这项研究详细介绍了一名患有9q21.13微删除综合征的7岁男孩,突出显示了严重的近视和大脑异常. 28名患者的基因型-表型相关性完善了对这种罕见遗传疾病的理解.

关键词:
9q21.13 微删除综合征在PCSK5中使用.普鲁尼 (PRUNE) 是一个简单的类型.在RORB中,RORB是指RORB.在TRPM6中,我们可以使用TRPM6.异常眼睛生理学 异常眼睛生理学没有缺席发作.阵列-CGH 这是一个CGH.大脑MRI异常 脑部MRI异常异形特征 异形特征是指异形的特征.基因型表型比较 基因型表型比较智力障碍 智力障碍是一种智力障碍.严重的近视近视.

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