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Showing 1 to 6 of 6 for “"molecular cytogenetics"”.

  1. Molecular cytogenetics and genetic characterisation of chromosomal rearrangements

    … SRGAP3. Secondly, I used SNP microarray and molecular cytogenetic studies to characterize chromosome 11p15 in 8 patients with the imprinting disorder Beckwith-Wiedemann syndrome (BWS). In addition to characterising 11p duplications in three patients, the breakpoints in two patients with …

    birmingham Repository record for Molecular cytogenetics and genetic characterisation of chromosomal rearrangements (opens in a new tab)

  2. Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting

    … 5% of ID/DD can be identified with conventional cytogenetics. The Affymetrix® Cytoscan™ High Density (HD) Array (Affymetrix, Santa Clara, CA) containing over 2.4 million markers for copy number (CN) was used to detect genome-wide high resolution CN and single nucleotide polymorphisms (SNPs) in a …

    cape-town Repository record for Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting (opens in a new tab)

  3. Utilization of fish for constitutional and acquired chromosomal abnormalities for diagnostic and prognostic purposes

    … in-situ hybridization (FISH) is a useful molecular cytogenetics technique for counting chromosomes and identifying specific chromosomal sequences of interest. FISH probe targets include centromeres, single loci, subtelomeres, and telomeres, using DNA or peptide nucleic acid (PNA) probes. …

    wvu Repository record for Utilization of fish for constitutional and acquired chromosomal abnormalities for diagnostic and prognostic purposes (opens in a new tab)

  4. The structure and evolution of breast cancer genomes

    … using data from array painting, SNP6 array CGH, molecular cytogenetics and massively parallel paired end sequencing. I then used these structural genomic maps to predict fusion transcripts and demonstrated expression of five fusion transcripts in HCC1187, three in VP229 and four in VP267. Even …

    cambridge Repository record for The structure and evolution of breast cancer genomes (opens in a new tab)