Article
Genetics of aneuoploidy in man reconsidered by banding studies.
La Ricerca in clinica e in laboratorio - 1 Jan 2000
Dallapiccola B, Calabro A, Di Franco C
Abstract excerpt
The effects of aneuploidy are only partially known in man, but the information available suggests that they are remarkably similar to those in Drosophila melanogaster. The fractions of the haploid genome that can be tolerated in three doses and in one dose approach 7 and 3%, respectively. Hypoploidy is more deleterious than hyperploidy. The phenotypic effects of aneuploidy result in an 'aneuploid syndrome' of...
Topics
- Adult
- Aneuploidy
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosome Disorders
- DNA
- Humans
- Infant, Newborn
- Phenotype
- Trisomy