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
2018
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
Couture T, Amato K, DiAdamo A, Li P. Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature. Case Reports In Genetics 2018, 2018: 8296478. PMID: 30271640, PMCID: PMC6151220, DOI: 10.1155/2018/8296478.Peer-Reviewed Original ResearchAcute myeloid leukemiaMyelodysplastic syndromeReview of literatureJumping translocationMyeloid leukemiaCases of MDSMore recipient chromosomesProgression of MDSInitial diagnosisPoor prognosisClinical significanceLate progressionHigh riskPatient careCytogenetic findingsOverall treatmentSyndromeLeukemiaProgressionCell lineagesChromosome 1qGenomic defectsChromosomal instabilityAdditional structural rearrangementsTranslocation