Molecular and cytogenetic studies of the Prader-Willi syndrome.
Twenty-seven subjects with the Prader-Willi syndrome (PWS) were studied. Sixteen (59%) had a cytogenetic deletion involving chromosome 15q11-13. Nine were non-deletional and two patients had structural rearrangements of chromosome 15: 47,XY, + del(15)(pter----q12), var(15)(p11) and 45,XX,t(14q15q)....
Uloženo v:
| Vydáno v: | J Med Genet |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
1991
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017050/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1682493/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.649 |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
