1998
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
Vance G, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon‐Delvallez N, Butler M, Palmer C. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. American Journal Of Medical Genetics 1998, 76: 51-57. PMID: 9508065, PMCID: PMC6775641, DOI: 10.1002/(sici)1096-8628(19980226)76:1<51::aid-ajmg9>3.0.co;2-s.Peer-Reviewed Original ResearchMeSH KeywordsCell LineChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, Human, Pair 7CytogeneticsFemaleGenetic MarkersHedgehog ProteinsHoloprosencephalyHumansIn Situ Hybridization, FluorescenceInfantInfant, NewbornKaryotypingMaleMosaicismPolymerase Chain ReactionProteinsTrans-ActivatorsTranslocation, GeneticConceptsSonic hedgehog geneHedgehog geneCell linesDifferent chromosome regionsStructural rearrangementsHuman Sonic Hedgehog genePatient cell linesMolecular cytogenetic analysisChromosome regionsChromosome 7Embryonic forebrainLong armGenesSitu hybridizationPolymerase chain reaction amplificationHPE3Chain reaction amplificationCytogenetic analysisMidline cleavageReaction amplificationRearrangementPhenotypeCritical regionLinesHybridization
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 openingFishCentromeresHeterochromatinTelomeresLociMild “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