Article
Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy.
American journal of medical genetics - 1 Sept 1994
Edwards M J, Park J P, Wurster-Hill D H, Graham J M
Abstract excerpt
We report on 2 cases of diploid/tetraploid (2n/4n) mixoploidy in surviving females, 11 and 21 years old. Both individuals manifested severe mental retardation, reduced peripheral limb muscle bulk, asymmetric growth deficiency, seizure disorder, and skin pigmentary dysplasia. Previous lymphocyte karyotypes had been normal on 2 occasions, but when skin fibroblast karyotypes were done, 33% of the cells were...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Cytogenetics
- Diploidy
- Female
- Fibroblasts
- Growth Disorders
- Humans
- Intellectual Disability
- Limb Deformities, Congenital