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
2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability
2008
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features
Mariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M. Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. Human Pathology 2008, 39: 1844-1848. PMID: 18657299, DOI: 10.1016/j.humpath.2008.04.013.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, Pair 19Combined Modality TherapyFibrosarcomaGene RearrangementHumansInfantMaleProto-Oncogene Proteins c-etsReceptor, trkCRepressor ProteinsRetroperitoneal NeoplasmsTomography, X-Ray ComputedTranslocation, GeneticTreatment OutcomeConceptsCongenital fibrosarcomaInflammatory myofibroblastic tumorUnusual histologic featuresGenotype/phenotype correlationGenotype-phenotype correlationMyofibroblastic tumorHistologic featuresMesenchymal tumorsTherapeutic armamentariumIntermediate malignancyTrisomy 8TumorsFibrosarcomaRefined diagnosisDiagnosisUltrastructural featuresMolecular diagnosisPhenotype correlationNovel findingsFusion signalCytogenetic analysis
2003
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.Peer-Reviewed Original ResearchConceptsChromosome 6Transcription factor FOXC1Nervous system developmentCentral nervous system developmentRing chromosome 6Microsatellite genotypingDevelopmental defectsOphthalmologic abnormalitiesRing 6Central nervous system examinationPhenotype comparisonsSegmental deletionsGenotype-phenotype correlationTerminal regionGene deletionNervous system examinationMixed hearing lossMolecular definitionSitu hybridizationDeletionFusion pointGenesAbnormal physical featuresCerebral dysgenesisFOXC1 gene