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Updated: Sep 12, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
三体15和单体X在一个产物概念:一个案例报告
Joshua Fernandez de la Vega1, Arian Pourmehdi Lahiji2, Song Han2
1Department of Pathology, John Sealy School of Medicine, Galveston, Texas, United States.
在受孕产物中发现了一个罕见的15型三体和X型单体病例. 染色体微阵列分析证实了这种形,有助于诊断并排除了水性形分子.
科学领域:
- 生殖遗传学 生殖遗传学
- 细胞遗传学 细胞遗传学
- 胎儿病理学 胎儿病理学
背景情况:
- 积体是导致自发流产的常见原因之一.
- 三体与并发的X单体是罕见的染色体异常.
- 这种特定的形积分会呈现出模仿水性形分子的特征.
研究的目的:
- 在受孕产品中报告三体15和单体X的病例.
- 突出染色体微阵列在妊娠流产的情况下的诊断实用性.
- 为了区分这种状况与水性形分子.
主要方法:
- 一个自发流产的案例描述在11周,怀孕6天.
- 超声波发现缺少心脏活动.
- 构造产物的组织病理学检查和细胞遗传学分析 (染色体微阵列).
主要成果:
- 染色体微阵列显示了三位体15和单位体X ([arr(X) ×1, (15) ×3)).
- 型与46,X +15.5一致.
- 在没有细胞遗传学确认的情况下,组织病理学发现可能是不确定的.
结论:
- 染色体微阵列对于准确诊断受孕产物形状的精确诊断至关重要.
- 它有助于排除具有临床意义的实体,如水性形分子.
- 在15号染色体上印制基因剂量的不平衡可能会影响基因病理表现.
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