2001
Small Marker Chromosome Identification in Metaphase and Interphase Using Centromeric Multiplex FISH (CM-FISH)
Henegariu O, Bray-Ward P, Artan S, Vance G, Qumsyieh M, Ward D. Small Marker Chromosome Identification in Metaphase and Interphase Using Centromeric Multiplex FISH (CM-FISH). Laboratory Investigation 2001, 81: 475-481. PMID: 11304566, DOI: 10.1038/labinvest.3780255.Peer-Reviewed Original ResearchConceptsHuman chromosome painting probesMolecular cytogenetic proceduresDNA probesSubtelomeric chromosomal regionsIdentification of aneuploidyChromosome painting probesM-FISH analysisAlpha-satellite regionMarker chromosome identificationMarker chromosomesChromosome identificationHuman chromosomesRepetitive sequencesChromosomal rearrangementsInterphase nucleiMultiplex FISHChromosomal regionsPainting probesMetaphase assayMultiplex fluorescenceM-FISHCytogenetic proceduresSpectral karyotypingChromosomesPlasmid probesCryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies
Henegariu O, Artan S, Greally J, Chen X, Korenberg J, Vance G, Stubbs L, Bray-Ward P, Ward D. Cryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies. Laboratory Investigation 2001, 81: 483-491. PMID: 11304567, DOI: 10.1038/labinvest.3780256.Peer-Reviewed Original ResearchConceptsSubtelomeric regionsHuman subtelomeric regionsMouse chromosomesHuman chromosomesP1 clonesMouse probeMultiplex fluorescenceM-FISHChromosomesFISH strategySet of probesStandard fluorescence microscopeSmall rearrangementsSitu hybridizationLabeling strategyCryptic translocationSubtelomeric probesIdiopathic mental retardationFluorescence microscopeKnown markerCentromeresKilobases
1997
Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)
Henegariu O, Heerema N, Vance G. Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3). American Journal Of Medical Genetics 1997, 68: 450-454. PMID: 9021020, DOI: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>3.0.co;2-r.Peer-Reviewed Original Research