摘要
目的探讨1例11号染色体长臂新发中间缺失患儿的临床表型和相关遗传学病因。方法 1例中度发育迟缓患儿,采用染色体核型分析G显带技术分析患儿及其父母的染色体核型,提取患儿及其父母全基因组DNA,采用染色体微阵列分析技术分析患儿及其父母的全基因组DNA拷贝数变异;查阅Decipher、OMIM、DGV等数据库,分析其遗传学检查结果。结果该例患儿父母外周血染色体核型分析和染色体微阵列分析结果均未见异常,患儿核型分析结果为46,XY,del(11)(q13.5q21),染色体微阵列分析结果为arr[hg19]11q13.5q21(76752340_93065447)×1,缺失片段大小为16.313Mb;查阅数据库未发现该缺失片段。结论该患儿11号染色体长臂中间缺失为新发缺失,可能与患儿中度发育迟缓的临床表型相关,从而导致其发育受限。
Objective To explore the clinical phenotype and related genetic causes of 11 q13.5 q21 interstitial deletion in a boy.Methods One boy with moderate developmental delay and his parents were analyzed the karotypes by routine Gbanded chromosomal analysis.Genomic DNA was extracted from the boy and his parents,and chromosome microarray analysis was used to analyze the genome-wide copy number variations.The genetic results were analyzed by means of database Decipher,OMIM,DGV and related document literatures.Results Neither karyotypic nor chromosome microarray abnormality was detected in parents.The chromosomal analysis result of the boy was 46,XY,del(11)(q13.5 q21),the chromosomal microarray analysis result was arr[hg19]11 q13.5 q21(76752340_93065447)×1,and the deletion fragment size was 16.313 Mb.There was no record about interstitial deletion of chromsome 11 q in the literature.Conclusion The interstitial deletion of chromsome 11 q is a de novo,which may be associated with the clinical phenotype of moderate developmental delay,and results in developmental limitations.
出处
《中华实用诊断与治疗杂志》
2017年第12期1175-1177,共3页
Journal of Chinese Practical Diagnosis and Therapy
基金
国家自然科学基金(81450018)
关键词
发育迟缓
染色体微阵列分析技术
核型分析
Developmental delay
chromosomal microarray analysis
karyotype analysis
