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 probes
1997
A case with mosaic di‐, tetra‐, and octacentric ring Y chromosomes
Henegariu O, Pescovitz O, Vance G, Verbrugge J, Heerema N. A case with mosaic di‐, tetra‐, and octacentric ring Y chromosomes. American Journal Of Medical Genetics 1997, 71: 426-429. PMID: 9286449, DOI: 10.1002/(sici)1096-8628(19970905)71:4<426::aid-ajmg10>3.0.co;2-i.Peer-Reviewed Original ResearchConceptsPresence of heterochromatinHigh-resolution G-bandingSpecific banding patternsHuman telomeresSRY locusRing Y chromosomeY chromosomePaint probesY centromereColor FISHBanding patternsPCR analysisUllrich-Turner syndromeTriple-color FISHQ-bandingRing chromosomesG-bandingChromosomesPhallic structuresUrogenital openingFishCentromeresHeterochromatinTelomeresLoci