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
2011
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Bajaj R, Xu F, Xiang B, Wilcox K, DiAdamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P. Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. Molecular Cytogenetics 2011, 4: 3. PMID: 21251322, PMCID: PMC3031273, DOI: 10.1186/1755-8166-4-3.Peer-Reviewed Original ResearchArray comparative genomic hybridizationCopy number alterationsAcute myeloid leukemiaClonal chromosomal abnormalitiesOligonucleotide array comparative genomic hybridizationGene contentBAC clonesEvidence-based approachComparative genomic hybridizationElderly patientsGenomic analysisGenomic contentDerivative chromosome 6Genomic featuresIsodicentric X chromosomeMyelodysplastic syndromeX chromosomeMyeloid leukemiaConclusionsOur dataCytogenomic analysisChromosome 6Clinical validitySegmental amplificationMYC geneClonal abnormalities