基因组测序检测到平衡的周心逆转,其断点影响着DMD和POU3F4基因的上游区域
Anjana Chandrasekhar1, Henry J Mroczkowski2, Nora Urraca2
1Illumina Inc, San Diego, California, USA.
American journal of medical genetics. Part A
|November 6, 2023
概括
一种新的X染色体逆转导致两个兄弟肌肉发育不良,自闭症和听力损失. 临床全基因组测序确定了这种大型基因组重组,此前其他测试没有发现.
科学领域:
- 遗传学 遗传学 是一个
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 杜申肌肉发育不良 (DMD) 是一种严重的遗传性疾病.
- 自闭症谱系障碍 (ASD) 和感官神经听力损失是复杂的神经发育状况.
- 对于涉及大型基因组重组的遗传疾病存在诊断挑战.
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