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在300名印度患者的队列中进行染色体微阵列分析的诊断收益率

Meena Bajaj Lall¹, Anju Joshi², Shruti Agarwal²

¹Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Old Rajender Nagar, New Delhi, 110060, India. lallmeena@gmail.com.

Indian journal of pediatrics

|May 8, 2025

概括

染色体微阵列分析 (CMA) 对印度儿童的遗传疾病的诊断收益率高,相比于型化. 这种方法有助于识别副本数变异 (CNV) 和新型遗传变异,改善基因型-表型相关性.

科学领域:

遗传学遗传学是一个
分子诊断学分子诊断
儿科疾病儿科疾病

背景情况:

染色体微阵列分析 (CMA) 是检测复制数变异 (CNV) 的强大工具.
关于CMA在印度儿科患者群体中的实用性存在有限的数据.
了解遗传变异对于诊断发育和先天性疾病至关重要.

研究的目的:

为了评估CMA的诊断产量作为印度儿科患者的一级测试.
为此群体中CNV的积累和注释做出贡献.
识别新的遗传热点并改善基因型-表型相关性.

主要方法:

在300名儿科患者中进行了型化和CMA (4X180K Agilent) 测试.
患者呈现出发育迟缓,失态,自闭症,智力障碍或先天性形.
结果使用ClinVar,ClinGen,OMIM和DECIPHER等数据库进行解释.

主要成果:

CMA实现了16.00% (48/300) 的诊断收益率,比型化 (7.0%,21/300) 高出9.0%.
在2.66% (08/300) 的病例中发现了不确定的意义的变化 (VOUS),这给解释带来了挑战.
良性变异被归类为正常.

结论:

CMA增强了微删除/重复综合征的检测,并对标记性染色体进行了表征.
该研究为印度人口提供了有关致病性CNV (pCNV) 和VOUS的宝贵数据.
使用CMA作为一级测试可以提高对遗传热点和基因型-表型相关性的理解,强调遗传咨询的重要性.

关键词:

自闭症自闭症自闭症在CMA,CMA是CMA.在CNV中,CNV是NV.这是一种先天性形.发育迟缓的发展延迟不同形态的异形主义.

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