CNVs and clinical diagnosis [electronic resource] / Brynn Levy.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2009Description: 1 online resource (1 streaming video file (44 min.) : color, sound)Subject(s): Gene Dosage | Genetic VariationOnline resources: Click here to access online | Series Animated audio-visual presentation with synchonized narration.
Title from title frames.
Contents: Genetic and chromosomal imbalance -- Survivable and "viable" chromosomal imbalance -- Clinical implications of chromosome abnormalities -- Chromosome analysis -- Diagnostic limits of conventional cytogenetic analysis -- How does banding resolution impact diagnostic ability? -- Molecular cytogenetics -- Fluorescence in situ hybridization (FISH) -- The clinical phenotype guides the choice of FISH test -- How do we determine the origin of marker chromosomes? -- Trisomy rescue -- Microarray analysis in clinical genetics -- Probe spacing and resolution -- Single nucleotide polymorphism oligonucleotide microarray analysis (SOMA) in clinical cytogenetics -- Partial aneuploidy -- Ring chromosome -- Gene composition of duplicated region -- Subtelomeric imbalances -- Gene composition of delete region -- FISH using Di George probe -- Neurofibromatosis -- Duchenne muscular dystrophy -- Rubinstein-Taybi syndrome -- Uniparental disomy -- Benefits of microarray analysis.
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Mode of access: World Wide Web.