中国循证儿科杂志2012，Vol.7Issue(4)：278-284,7.DOI:10.3969/j.issn.1673-5501.2012.04.008
11q24-q25缺失2例临床表型及文献复习
Genotype and phenotype correlations for the deletion of 11q24.2-q25: 2 cases report and literature review
摘要
Abstract
Objective To screen for genomic copy number variants ( CNVs ) in two independent neonates with multiple congenital malformations using Affymetrix 2. 7 M chip, and to identify possible pathologic CNVs and establish the genotype-phenotype correlation. Methods Genomic CNVs were detected in the 2 individuals by using Affymetrix cytogenetic whole genome 2. 7 M array. Rare CNVs with potential clinical significance were selected of which deletion segments'size was larger than 50 kb and duplication segments'size larger than 200 kb based on the analysis of ChAs software, without false positive CNVs and segments of normal population. The identified CNVs with region over 2. 5 Mb were selected and further analyzed with related published literatures. Results ① Both two included patients displayed facial dysmorphisms, patent ductus arteriosus, and abnormal finding of MRI. Additionally, cryptorchism in case 1 and splenomegaly in case 2 were reported. ② 4 CNVs of which length was from 5. 6 —32. 5 Mb were identified in 2 neonates, including a 7. 5 Mb deletion on 11q24. 2-q25 and a 11.4 Mb duplication on 12pl3. 33-pl3. 2 in case 1, a 5. 5 Mb deletion on 11q24. 3-q25 and a 32. 5 Mb duplication on 11pl3-pl5. 5 in case 2. ③ The overlapping deletion region of these 2 patients was 11 q24-q25. Terminal deletions of the long arm of chromosome 11 caused a haploinsufficiency disorder ( Jacobsen syndrome, JBS ). Conclusions The study established the methodology to discover whole genome CNVs in identifying complex chromosome rearrangement, allowing an early diagnosis of affected individuals to be made especially neonates without characteristic symptoms. Here, our findings contribute to the refinement of the genotype-phenotype correlations for JBS.关键词
11q部分单体/11p部分三体/Jacobsen综合征/Beckwith-Wiedemann综合征/表型Key words
11q deletion/ 11p duplication/ Jacobsen syndrome/ Beckwith-Wiedemann syndrome/ Clinical phenotype引用本文复制引用
杨琳,陈龙霞,詹国栋,王来栓,程国强,马端,黄国英,周文浩..11q24-q25缺失2例临床表型及文献复习[J].中国循证儿科杂志,2012,7(4):278-284,7.基金项目
国家重点研发计划资助:2009CB941704 （）
上海市科委重大课题子课题:11dz1950300 （）
