Article
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.
Clinical genetics - 1 Jan 1996
Barnicoat A J, Bonneau J L, Boyd E, Docherty Z, Fennell S J, Huret J L, King M, Maltby E L, McManus S, Pilz D T, Shafei-Benaissa E, Super M, Tolmie J
Abstract excerpt
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (2...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, Pair 21
- Clinical Protocols
- Down Syndrome
- Female
- Follow-Up Studies
- Gene Deletion
- Humans
- International Cooperation
- Karyotyping
- Male