Article
Analysis of clinical variation seen in patients with 18q terminal deletions.
American journal of medical genetics - 4 Dec 1995
Strathdee G, Zackai E H, Shapiro R, Kamholz J, Overhauser J
Abstract excerpt
Twenty-six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q- syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions...
Topics
- Abnormalities, Multiple
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- Female
- Gene Deletion
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Phenotype
- Syndrome