目的 探讨应用微阵列比较基因组杂交技术（array comparative genomic hybridization，aCGH）诊断2例7q11.22微缺失，并分析其临床表现和7q11.22缺失的相关性。
方法 对应用常规染色体核型分析未见异常的2例不明原因智力低下/发育迟缓患儿采用aCGH 技术进行全基因组拷贝数变化(copy number variations，CNVs)分析。
结果 发现2例患儿均为7q11.22片段缺失，分别位于：chr7:6947962169539140; chr7:6994565270019838，经与数据库比对均为致病性缺失片段（AUTS2基因）。
结论 aCGH技术可以弥补染色体核型分析的不足，具有更高的分辨率，更具有临床应用价值。
Abstract
Objective To investigate the diagnosis of 2 cases with 7q11.22 microdeletion by applying array based comparative genomic hybridization (aCGH) and to analyze the relationship between the clinical manifestations and 7q11.22 microdeletion.
Method The aCGH technique was used to detect genomic copy number variations (CNVs) in 2 cases with normal karyotype after conventional chromosomal karyotyping.
Result The aCGH detected 7q11.22 deletion (chr7:69479621-69539140 and chr7:69945652-70019838),which was confirmed as pathogenic CNV after comparative analysis with database.
Conclusion The array-CGH could serve as a useful complement for G-banding and to be used in the clinical cytogenetic diagnosis.
关键词
微阵列比较基因组杂交技术 /
7q11.22 /
基因组拷贝数变化 /
核型分析
Key words
array based comparative genomic hybridization /
7q11.22 /
copy number variations /
karyotype
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] 朱雪娜,闫淑娟,李东阳.2001-2010年北京市5 岁以下儿童先天异常死亡状况分析[J].中国儿童保健杂志,2011,19(6):554-557.
[2] Xiang B,Zhu H,Shen Y,et al.Genome-wide oligo-nucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation:a multicenter experience of 1499 clinical cases[J].J Mol Diagn,2010,12(2):204-212.
[3] Sahoo T,Theisen A,Rosenfeld J A,et al.Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems[J].Genetics in Medicine,2011,13(10):868-880.
[4] Chong WWS,Lo IFM,Lam STS,et al.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay,autism,and multiple congenital anomalies in a Chinese cohort[J].Molecular Cytogenetics,2014,7(1):34.
[5] Shivakumar BM,Rotti H,Vasudevan TG,et al.Copy number variations are progressively associated with the pathogenesis of colorectal cancer in ulcerative colitis[J].World Journal of Gastroenterology,2015,21(2):616.
[6] Hamm JA,Mikhail FM,Hollenbeck D,et al.Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization[J].The Journal of Pediatrics,2014,165(5):1057-1059.e4.
[7] Hochstenbach R,Poot M,Nijman IJ,et al.Discovery of variants unmasked by hemizygous deletions[J].European Journal of Human Genetics,2012,20(7):748-753.
[8] 刘静.373例不明原因智力障碍/生长发育迟缓,多发畸形患者的全基因组拷贝数变异分析[D].长沙:中南大学,2013.
[9] Passariello A,De Brasi D,Defferrari R,et al.Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy[J].European Journal of Medical Genetics,2013,56(11):626-634.
PDF(464 KB)
