2015
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
Wang Q, Wu W, Xu Z, Luo F, Zhou Q, Li P, Xie J. Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature. Molecular Cytogenetics 2015, 8: 97. PMID: 26697114, PMCID: PMC4687147, DOI: 10.1186/s13039-015-0198-4.Peer-Reviewed Original ResearchMethylation patternsCopy number changesLow-copy repeatsNumber changesChromosome 15Further gene expressionRing chromosomesSmall ring chromosomeGenomic structureEpigenetic patternsComparative genomic hybridization analysisPhenotypic consequencesGene expressionMb regionGenomic hybridization analysisChromosomesIntrachromosomal deletionsHybridization analysisMb segmentArray comparative genomic hybridization analysisMethylation-specific multiplex ligation-dependent probe amplificationCopy repeatsMS-MLPA analysisSitu hybridizationPhenotype correlation
2010
Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases
Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, Wu BL, Li P, Li MM, Chen TJ, Fan YS. Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases. Journal Of Molecular Diagnostics 2010, 12: 204-212. PMID: 20093387, PMCID: PMC2871727, DOI: 10.2353/jmoldx.2010.090115.Peer-Reviewed Original ResearchConceptsClinical useCopy number changesMental retardationMulticenter experienceProband patientEtiological diagnosisDiagnostic yieldClinical utilityCommon microdeletion syndromeClinical relevanceClinical casesArray comparative genomic hybridizationPathogenic copy number changesComparative genomic hybridizationMicrodeletion syndromeDiagnostic laboratoriesFurther investigationDiagnosisOligonucleotide array comparative genomic hybridizationAbnormal casesGenomic imbalancesGenomic hybridization