使用单核酸多态 (SNP) 微阵列检测的全基因组单亲性异构症在摩拉怀孕:一个案例报告
Onyinye O Okonkwo1, Veronica Ortega1, Sheila Kane1
1Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Molecular cytogenetics
|February 26, 2025
概括
这项案例研究突出了43岁女性的完全水性形 (CHM) 诊断. 高分辨率SNP微阵列证实了CHM与uniparental isodisomy和9号染色体逆转.
科学领域:
- 生殖医学 生殖医学
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 妊娠期热囊细胞瘤包括完整的水性形分子 (CHM) 和部分水性形分子 (PHM),两者都是异常概念.
- 在组织学,遗传来源和临床表现方面,CHM和PHM有所不同.
- 典型的CHM呈现的是双胞胎46,XX型,缺乏母亲的遗传贡献,并具有所有父亲的染色体.
研究的目的:
- 为了呈现一种具有异常遗传发现的CHM病例.
- 在CHM中证明高分辨率SNP微阵列的诊断实用性.
主要方法:
- 一个43岁女性的CHM病例呈现出大量出血.
- 染色体分析显示了一个46,XX型,在9号染色体上具有同卵性周心逆转.
- 高分辨率的SNP微阵列识别了整个基因组的单亲异构.
主要成果:
- 这位患者被诊断为CHM.
- 遗传分析显示9号染色体上存在同卵同胞的周心逆转.
- 通过高分辨率SNP微阵列检测了全基因组单亲异体.
结论:
- 这种病例证实了CHM在9号染色体和全基因组单亲异体分裂上具有同卵性围心逆转.
- 高分辨率SNP微阵列在诊断CHM方面是有效的,特别是在复杂的遗传病例中.
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