Article
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.
American journal of human genetics - 1 Sept 1994
Boghosian-Sell L, Mewar R, Harrison W, Shapiro R M, Zackai E H, Carey J, Davis-Keppen L, Hudgins L, Overhauser J
Abstract excerpt
In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, we have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have...
Topics
- Abnormalities, Multiple
- Adult
- Cell Line
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- DNA Mutational Analysis
- Female