Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation.
- VernacularTitle:一个中国人手足裂畸形基因组拷贝数变异分析
- Author:
Yunying CHEN
1
;
Huanzheng LI
;
Shaohua TANG
;
Ting HU
;
Jicheng DU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Asian Continental Ancestry Group; genetics; China; Chromosome Duplication; DNA Copy Number Variations; DNA Polymerase beta; genetics; Homeodomain Proteins; genetics; Humans; Limb Deformities, Congenital; genetics; Male; Polymorphism, Single Nucleotide; Transcription Factors; genetics; beta-Transducin Repeat-Containing Proteins; genetics
- From: Chinese Journal of Medical Genetics 2014;31(6):774-777
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo employ single nucleotide polymorphisms (SNP) microarray to detect copy number variations (CNVs) for the diagnosis of disease and molecular classification.
METHODSFor a patient with split-hand/split-foot malformation, genome-wide copy number variants SNP microarray was applied. Tiny copy number variations were verified by real-time fluorescent quantitative PCR.
RESULTSThe results of SNP microarray has revealed that the patient has carried a 0.39 Mb duplication in 10q24.31-24.32 (102 955 122-103 348 688), which has encompassed genes including LBX1, BTRC and POLL. By real-time fluorescent quantitative PCR, duplicate area encompassing the pathogenic genes have been verified. The results for LBX1, BTRC, POLL genes were all consistent with the SNP microarray test. Moreover, a duplication was detected in exon 9 of FBXW4 gene which is in nearby.
CONCLUSIONSNP chips can efficiently identify tiny CNVs (< 1.0 Mb). In combination with real-time fluorescence quantitative PCR, this may provide valuable information for prenatal diagnosis.
