拷贝数变异分析及染色体核型分析在发育迟缓与智力障碍儿童中的应用
Application of copy number variation analysis and chromosome karyotype analysis in children with developmental delay/intellectual disability
刘为 1赵溜 1涂明 1罗真情 1谌芳 1杨永佳1
作者信息
- 1. 410007 湖南长沙,湖南省儿童医院医学遗传科
- 折叠
摘要
目的 探讨拷贝数变异分析及染色体核型分析在发育迟缓/智力障碍(DD/ID)儿童中的应用.方法 对湖南省儿童医院连续 649 例DD/ID患儿进行染色体微阵列(CMA)检测.通过参考以前的报告或使用荧光原位杂交(FISH)及定量聚合酶链反应(q-PCR)进行的亲本检测结果来评估拷贝数变异(CNV)的致病性.结果 649 例DD/ID患儿中有 110 例检出致病性CNV,检出率为 16.9%,其中包括长度为 270 kb～30 Mb的 100 个缺失和 31 个重复.对 66 例患儿父母进行CMA检测,其中 86.4%携带新生CNV.8 例患儿的致病性CNV遗传自健康父母,具有平衡易位.在 2p21p16.3、3p21.31、10p11.22、14q24.2和 21q22.13 位点验证了 5 个罕见报告的缺失.结论 CMA检测在DD/ID患儿的基因诊断中具有临床实用性.CMA检测可作为所有DD/ID儿童的临床诊断检测.
Abstract
Objective To investigate the application of copy number variation analysis and chromosome karyotype analysis in children with developmental delay/intellectual disability(DD/ID).Methods Chromosome microarray(CMA)detection was performed in 649 consecutive children with DD/ID in Hunan Children's Hospital.Medical records were reviewed retrospectively.Pathogenicity of detected copy number variations(CNV)was evaluated by referencing previous reports or parental testing using fluorescence in situ hybridization(FISH)and quantitative polymerase chain reaction(q-PCR).Results In 649 children with DD/ID,110 cases were found with pathogenic CNV,and the diagnostic yield was 16.9%,including 100 deletions and 31 duplications of 270 kb-30 Mb.Parental testing was performed in 66 patients,86.4%of which carried de novo CNVs.In eight children,pathogenic CNVs were inherited from healthy parents with a balanced translocation,and genetic counseling was provided to these families.Five rarely reported deletions were verified on 2p21p16.3,3p21.31,10p11.22,14q24.2 and 21q22.13 sites.Conclusions CMA test has clinical practicability in genetic diagnosis of patients with DD/ID.CMA test should be used as a clinical diagnostic test for all children with DD/ID.
关键词
染色体微阵列/拷贝数变异/发育迟缓/智力障碍/诊断效能Key words
Chromosomal microarray/Copy number variation/Developmental delay/Intellectual disability/Diagnostic efficacy引用本文复制引用
出版年
2024
NETL
NSTL
万方数据