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