组织特异性15型三形的马赛克与泌尿器官形有关
Agneta Nordenskjöld1, Kristina Lagerstedt-Robinson2, Britt-Marie Anderlid2
1Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, SE-17176, Stockholm, Sweden; Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-17176, Stockholm, Sweden.
European journal of medical genetics
|August 26, 2023
概括
一个患有先天性异常的男孩被诊断出患有三形15型马赛克症,主要影响生殖器和尿道组织. 这种特定于组织的遗传条件对他的生殖健康有影响,而不是兄弟姐妹.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- врожденные异常,如hypospadias,膀外流,和认知障碍可以有复杂的遗传基础.
- 标准基因检测可能并不总是检测出低水平或组织受限的马赛克主义.
- 三胞体15号马赛克是一种罕见的染色体异常,在某些细胞中存在15号染色体的额外副本.
研究的目的:
- 报告一个患有先天性异常和受组织限制的15型三症的男性患者的病例.
- 调查识别马赛克染色体异常的诊断挑战和影响.
- 为了探索15型三体病的起源和程度,在不同的组织中进行了马赛克.
主要方法:
- 对从生殖器组织中取出的DNA进行染色体微阵列 (CMA) 分析.
- 光现场杂交 (FISH) 用于验证和马赛克率的确定.
- 甲基化特异的多重结合依赖探头放大 (MS-MLPA) 确定父母的起源.
- 在各种组织类型 (生殖器,膀,口腔,皮肤) 上的CMA.
主要成果:
- 最初的标准遗传测试结果正常.
- 生殖器组织上的CMA显示了三症15的80%的马赛克.
- 在膀粘膜 (56%) 和肌肉 (45%) 中检测到高水平的三综合症15.
- 在口腔粘膜和腹部皮肤中发现低度或不存在15型三发症.
- 额外的15号染色体被证实是来自母亲的.
- 他们注意到了布拉什科的线条,表明了马赛克主义.
结论:
- 组织受限型三形15型马赛克症会导致特定器官系统的先天性形.
- 诊断方法应考虑马赛克染色体异常,特别是在无法解释的先天性异常的情况下.
- 虽然兄弟姐妹没有复发风险,但受影响的个体可能有风险产生无体性雌同体,影响未来的生殖选择.
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