2024
Ring Chromosome 13
Li P, Chong M. Ring Chromosome 13. 2024, 201-214. DOI: 10.1007/978-3-031-47530-6_17.Peer-Reviewed Original ResearchChromosomal microarray analysisFluorescence in situ hybridizationGenomic imbalancesMaternal germline mosaicismRing chromosome 13Termination of pregnancyMother-to-daughter transmissionGenotype-phenotype correlationConsecutive pregnanciesHearing lossGermline mosaicismCraniofacial dysmorphismClinical featuresClinical manifestationsPrenatal diagnosisAdult casesChromosome 13Skeletal anomaliesGenetic counselingDevelopmental delayMicroarray analysisDelayed speechClinical geneticistsDynamic mosaicPatients
2018
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
Hu Q, Chai H, Shu W, Li P. Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Molecular Cytogenetics 2018, 11: 19. PMID: 29492108, PMCID: PMC5828142, DOI: 10.1186/s13039-018-0367-3.Peer-Reviewed Original ResearchRing chromosomesRing chromosome XRing chromosome syndromesRing chromosome formationGenomic copy numberChromosome therapyChromosome structureChromosome formationAutosomal ringsCytogenomic diagnosisRing chromosome 4Chromosome 4Chromosome 5Cell cycleChromosomesChromosome XChromosome 14Chromosome 16Dynamic mosaicismGenotype-phenotype correlationChromosome 18Copy numberSequencing analysisGenomic imbalancesRing chromosome 13