Article
Molecular mapping of twenty-four features of Down syndrome on chromosome 21.
European journal of human genetics : EJHG - 1 Jan 1993
Delabar J M, Theophile D, Rahmani Z, Chettouh Z, Blouin J L, Prieur M, Noel B, Sinet P M
Abstract excerpt
To determine which regions of chromosome 21 are involved in the pathogenesis of specific features of Down syndrome, we analysed, phenotypically and molecularly, 10 patients with partial trisomy 21. Six minimal regions for 24 features were defined by genotype-phenotype correlations. Nineteen of th...
Topics
- Adolescent
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Down Syndrome
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Karyotyping