Article
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
American journal of human genetics - 1 Jan 1992
McGinniss M J, Kazazian H H, Stetten G, Petersen M B, Boman H, Engel E, Greenberg F, Hertz J M, Johnson A, Laca Z
Abstract excerpt
We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number of chromosome 21 sequences in the rings of these patients was determined by quantitative dosage analyses for 13 loci on 21q. Nine of 11 r(21)s, including the 5 familial r(21)s, showed no evidence for duplication of 21q...
Topics
- Alleles
- Autoradiography
- Blotting, Southern
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 21
- DNA
- Humans
- Karyotyping
- Pedigree
- Phenotype