Article
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Human genetics - 1 Dec 1996
Trask B J, Mefford H, van den Engh G, Massa H F, Juyal R C, Potocki L, Finucane B, Abuelo D N, Witt D R, Magenis E, Baldini A, Greenberg F, Lupski J R, Patel P I
Abstract excerpt
We have used bivariate flow karyotyping to quantify the deletions involving chromosome 17 in sixteen patients with Smith-Magenis syndrome (SMS). The fluorescence intensities of mitotic chromosomes stained with Hoechst 33258 and chromomycin were quantified in a dual-beam flow cytometer. For each p...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- Female
- Flow Cytometry
- Genotype
- Humans
- Karyotyping
- Male
- Phenotype