Article
Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994
Sinet P M, Théophile D, Rahmani Z, Chettouh Z, Blouin J L, Prieur M, Noel B, Delabar J M
Abstract excerpt
Phenotypic and molecular analysis of individuals with partial trisomy 21 can be used to determine which regions of chromosome 21 are involved in the pathogenesis of specific features of Down's Syndrome. Using dosage analysis of 27 sequences we defined, at the molecular level, the extent of the ch...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Down Syndrome
- Genotype
- Humans
- Intellectual Disability
- Phenotype