2017
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J. De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Molecular Cytogenetics 2017, 10: 46. PMID: 29270226, PMCID: PMC5738159, DOI: 10.1186/s13039-017-0347-z.Peer-Reviewed Original ResearchBeckwith-Wiedemann syndromeMethylation profilingGenome-wide copy number analysisGain of methylationAberrant methylation patternsIntegrated molecular approachSingle gene mutationsCopy number analysisSegmental uniparental disomyMethylation patternsGenetic mechanismsChromosome 11p15.5Genetic analysisTelomeric endMicroarray analysisMolecular approachesMolecular etiologyDuplicationBWS patientsNumber changesUniparental disomyGenetic defectsChromosome microarray analysisNumber analysisPaternal origin
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