Search results for "G banding"

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Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome

2007

Purpose: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). Methods: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. Results: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. Conclusion: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.

AdultMaleEye DiseasesLRP1BG bandingChromosomal translocationBiologyTranslocation GeneticDNA sequencingmedicineHumansPigment Epithelium of EyeGeneIn Situ Hybridization FluorescenceGenetics (clinical)Sequence DeletionGeneticsChromosomes Human Pair 15Chromosomes Human Pair 10BreakpointNucleic Acid Hybridizationmedicine.diseaseMolecular biologyOphthalmologyPediatrics Perinatology and Child HealthPigment dispersion syndromeFish <Actinopterygii>Retinal PigmentsOphthalmic Genetics
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Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluores…

2001

This study combines conventional cytogenetics, fluorescence in situ hybridization (FISH), multiplex-FISH and comparative genomic hybridization (CGH). In applying this multimodal approach on the human leukemia cell line K562, the chromosome composition was refined in detail and compared with data from the literature. A hypotriploid karyotype with a modal chromosome number of 67, and 21 unique marker chromosomes were identified. The classification of six markers was identical to published data and the composition of five further markers from the literature could be fully clarified for the first time. The composition of another five markers, which have been interpreted in divergent ways in dif…

Genetic MarkersCancer Researchmedicine.medical_specialtyG bandingIn situ hybridizationComputational biologyBiologyChromosome PaintingCytogeneticsmedicineHumansIn Situ Hybridization FluorescenceGeneticsmedicine.diagnostic_testCytogeneticsChromosome MappingNucleic Acid HybridizationKaryotypeHematologyModal Chromosome NumberOncologyKaryotypingK562 CellsVirtual karyotypeComparative genomic hybridizationFluorescence in situ hybridizationLeukemia research
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