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Updated: Jun 12, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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偏心逆转扰乱了SHANK2基因的发生

Jolien Huyghebaert1, Bregje Christiaenssen1, Marjan De Rademaeker2

  • 1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

European journal of medical genetics
|March 8, 2025
PubMed
概括

在一个发育迟缓的女孩身上发现了11号染色体上的大量染色体逆转. 这一遗传发现,破坏了SHANK2基因,为她的神经发育障碍 (NDD) 提供了可能的分子诊断.

关键词:
染色体逆转是一种染色体逆转.智力障碍 智力障碍是一种智力障碍.通过光学基因组映射进行了基因组映射.这就是SHANK2的原因.整个基因组的测序.

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