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Updated: Jun 11, 2025

FISH for Pre-implantation Genetic Diagnosis
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有关X染色体的智力障碍,新染色体9p12-pter在Xp染色体上的不平衡转位

Kengo Maeda1,2, Yoshiko Sugihara1

  • 1Department of Neurology, National Hospital Organization Higashi-ohmi General Medical Center, Japan.

Internal medicine (Tokyo, Japan)
|September 29, 2024
PubMed
概括

这项研究在一个患有严重智力障碍,和身体形的男性中发现了一种新的X-自带转位. 这种遗传异常,涉及9p的远端三症和Xp无症,为X相关的智力障碍提供了新的见解.

关键词:
9p 三症组 9p 三症组在X-自体转位转位的过程中.与X相关的智力障碍是X相关的精神障碍.在Xp nullisomy中使用.

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