1.Chromosome microarray analysis of patients with 18q deletion syndrome.
Jiebin FENG ; Jiansuo HAO ; Yiyang CHEN ; Fan LI ; Jin HAN ; Ru LI ; Yongling ZHANG ; Tingyin LEI ; Feifei CHEN ; Qiaoli GUO ; Can LIAO ; Hongtao WANG
Chinese Journal of Medical Genetics 2016;33(2):203-207
OBJECTIVETo analyze the correlation between the genotype and phenotype of 18q deletion syndrome with chromosome microarray analysis (CMA).
METHODSEight cases with 18q deletion syndrome were selected, including two affected fetuses and six children patients. DNA was extracted and hybridized with Affymetrix CytoScan TM 750K arrays following the manufacturer's standard protocol. The data was analyzed with a special software package.
RESULTSCMA analysis identified pathogenic copy number variations (CNVs) on 18q in all cases, which ranged from 6.612 Mb to 22.973 Mb. NFATC1, GALR1, MBP, SALL3 and TSHZ1 are likely to be causative genes for congenital heart disease, psychological, growth retardation, and cleft palate.
CONCLUSIONCMA can precisely locate the breakpoints of 18q and facilitate definition of the genotype-phenotype correlations, which is useful for prognosis.
Child, Preschool ; Chromosome Deletion ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis
Result Analysis
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