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 mosaicPatientsRing 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 retardationPatientsHistorical Perspective of Human Ring Chromosomes
Li P, Liehr T. Historical Perspective of Human Ring Chromosomes. 2024, 3-15. DOI: 10.1007/978-3-031-47530-6_1.Peer-Reviewed Original ResearchRing chromosomesCytogenomic analysisChromosomal structural abnormalitiesPatient advocate organizationsRisk of infertilityGenomic rearrangementsKaryotype evolutionChromosome-specificRelated phenotypesRC formationChromosome casesAffected patientsChromosomeClinical managementMolecular mechanismsRare typeStructural abnormalitiesLaboratory diagnosisClinical heterogeneityDynamic mosaicGenetic counselingMitotic behaviorSystematic evidence reviewOnline registryEvidence-based treatments
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
2014
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Molecular Cytogenetics 2014, 7: 84. PMID: 25530804, PMCID: PMC4271441, DOI: 10.1186/s13039-014-0084-5.Peer-Reviewed Original ResearchPrenatal ultrasound findingsUltrasound findingsMultiplex ligation-dependent probe amplificationCri du chat syndromeArray comparative genomic hybridization analysisComparative genomic hybridization analysisCytogenomic abnormalitiesLigation-dependent probe amplificationGenomic hybridization analysisMb deletionJacobsen syndromeGenetic counselingChat syndromeAbnormal ultrasound findingsPost-test genetic counselingMb duplicationPaternal balanced translocationSplit hand/foot malformationProbe amplificationACGH analysisMaternal screeningSpontaneous abortionPrenatal casesClinical utilityBackgroundThe aims