一个具有47,XXY/46,XX型个体的多中心分析
Tiffany Guess1, Ferrin C Wheeler2, Ashwini Yenamandra2
1Molecular Pathology Laboratory Network, Maryville, TN; Department of Pathology, Vanderbilt University Medical Center, Nashville, TN.
概括
克莱因费尔特综合征 (47,XXY) 增加了46,XX细胞系,呈现出不同的临床表型和管理挑战. 由于低级别的马赛克主义,基因检测 (如型) 对于准确的诊断至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 内分泌学 在内分泌学.
背景情况:
- 克莱因菲尔特综合征的特征是47,XXY染色体补充,约600个活生生的男婴中约有1个受到影响.
- 克莱因菲尔特综合征患者中存在额外的46,XX细胞系是一种罕见的变异,发表的数据有限.
研究的目的:
- 调查罕见的47,XXY/46,XX型的临床和细胞遗传影响.
- 分析这种特定的性别染色体形症患者的表型和管理策略的异质性.
主要方法:
- 进行了回顾性多中心分析.
- 审查了来自14个机构的34名患者的细胞遗传发现和临床记录.
主要成果:
- 在患者之间,XX细胞系的百分比差异很大 (5%-98%).
- 临床表现显示出显著的异质性,包括模两可的生殖器和卵巢 (12%的病例).
- 两个患有这种型的患者在出生时被赋予女性性别.
结论:
- 47,XXY/46,XX型与可变的临床表型和复杂的管理有关.
- 型或FISH分析是推用于检测低水平的马赛克,在这些情况下表现优于染色体微阵列或分子测试.
关键词:
47,XXY/46,XX 型是一种类型.性发展的差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性差异性克莱因费尔特综合征是什么意思卵子测试 卵子测试性染色体无倍化发生在性别染色体上.更多相关视频
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