TY  - ADVS
AU  - Levy,Brynn
TI  - CNVs and clinical diagnosis
T2  - Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
PY  - 2009///
CY  - London
PB  - Henry Stewart Talks
KW  - Gene Dosage
KW  - Genetic Variation
N1  - 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/1399/
UR  - https://hstalks.com/bs/p/439/
ER  -