2024
Ring Chromosome 9
Szekely A, Li P. Ring Chromosome 9. 2024, 159-169. DOI: 10.1007/978-3-031-47530-6_13.Peer-Reviewed Original ResearchRing chromosome 9Fluorescence in situ hybridizationChromosomal microarray analysisGenomic imbalancesStructural chromosomal abnormalitiesGene contentGenome sequenceChromosome 9Congenital heart defectsTermination of pregnancyOccurring de novoAdult male patientsMicroarray analysisDynamic mosaicGenetic counselingSevere growth retardationHeart defectsGenital anomaliesChromosomal abnormalitiesRespiratory complicationsMale patientsPrenatal diagnosisCardiac arrestGrowth retardationPatients
2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2020
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
Xie X, Tan W, Li F, Carrano E, Ramirez P, DiAdamo A, Grommisch B, Amato K, Chai H, Wen J, Li P. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence. Molecular Genetics & Genomic Medicine 2020, 8: e1297. PMID: 32383339, PMCID: PMC7336728, DOI: 10.1002/mgg3.1297.Peer-Reviewed Original ResearchConceptsPositive predictive valueLarge case seriesNoninvasive prenatal screeningChromosomal microarray analysisCase seriesCytogenetic analysisMonosomy XPrenatal screening resultsPrenatal diagnosisMosaic patternSex chromosomal abnormalitiesEvidence-based approachReview of literaturePositive ratePrenatal genetic counselingSCA casesPredictive valueStructural abnormalitiesSystematic reviewCytogenetic testingPrenatal screeningSex chromosome abnormalitiesChromosomal abnormalitiesCase 2Case 1
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
2016
Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism
2008
Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. American Journal Of Medical Genetics Part A 2008, 146A: 1942-1954. PMID: 18627053, DOI: 10.1002/ajmg.a.32411.Peer-Reviewed Original ResearchMeSH KeywordsChildChromosome DeletionChromosomes, Artificial, BacterialDevelopmental DisabilitiesFemaleGene DuplicationGenome, HumanHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingMaleMosaicismOligonucleotide Array Sequence AnalysisPilot ProjectsROC CurveSensitivity and SpecificityConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenomic hybridizationMosaic patternGenomic contentPolymorphic inversionsFemale DNAGenomic disordersGenomic variantsOligonucleotide arraysChromosomesGenomic aberrationsFISH analysisChromosomal abnormalitiesDifferent chromosomal abnormalitiesSitu hybridizationRobertsonian translocationsMarker chromosomesDeletionDNA mixturesHybridizationMental retardationDuplicationDNADouble-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization
Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P. Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genetics 2008, 183: 117-120. PMID: 18503831, DOI: 10.1016/j.cancergencyto.2008.02.011.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationComparative genomic hybridizationBacterial artificial chromosome clone probesGenomic imbalancesGenomic hybridizationDouble minutesPVT1 geneChromosomal observationsChromosome XDeletionSitu hybridizationRecurrent chromosomal abnormalitiesGenomic findingsGenesHybridizationMYC probeCDKN2BChromosome analysisCDKN2AMTAPChromosomal abnormalitiesChromosomal analysisELAVL2TRIB1MYC