| Autor: |
de France HF, Beemer FA, Ippel PF |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical genetics [Clin Genet] 1984 Oct; Vol. 26 (4), pp. 379-82. |
| DOI: |
10.1111/j.1399-0004.1984.tb01075.x |
| Abstrakt: |
We describe a six-year-old boy with the typical features of Prader-Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding-pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader-Willi syndrome and various chromosome 15 abnormalities are discussed. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
Plný text