在产前诊断-分子特征和临床结果中的小超数标记染色体
Ivana Joksic1, Mina Toljic1, Iva Milacic1
1Laboratory for Medical Genetics, Gynecology and Obstetrics Clinic "Narodni Front", Belgrade, Serbia.
Frontiers in genetics
|January 23, 2024
概括
小超数标记染色体 (sSMCs) 是罕见的产前发现. 对sSMCs的分子表征对于准确的遗传咨询和理解基因型-表型相关性至关重要.
科学领域:
- 产前诊断 在产前诊断
- 细胞遗传学 细胞遗传学
- 人类遗传学 人类遗传学
背景情况:
- 小超数标记染色体 (sSMCs) 是产前诊断中的罕见发现.
- sSMC对产前遗传咨询提出了重大挑战.
- 准确的表征对于基因型-表型相关性至关重要.
研究的目的:
- 报告和描述12个在10年内检测到的产前sSMCs病例.
- 评估sSMCs在产前诊断中的发生率和临床影响.
- 强调分子细胞基因组学方法对于sSMC分析的重要性.
主要方法:
- 使用GTG-banding对9620个产前诊断病例的分析.
- 使用光在位杂交 (FISH) 和染色体微阵列 (CMA) 检测到的12种sSMC的分子表征.
- 在选定的情况下进行额外的单亲异构 (UPD) 测试.
主要成果:
- 在9620例中,sSMC的发病率为0.12% (12例).
- 在9个案例中使用FISH,在3个案例中使用CMA.
- 常见的sSMC形状包括中心分钟,反向重复和环形状. sSMCs起源于一个中心,一个性别和一个非中心的自体染色体.
结论:
- 在这些sSMC病例中,产前超声波检测到没有异常.
- 58%的病例导致正常出生结果;一个病例有出生异常.
- 对sSMCs的分子表征对于知情的遗传咨询和管理至关重要.
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