Publication: Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment
Date
Date
Date
Citations
Fraccaro, M., Zuffardi, O., Bühler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., & Vigi, V. (1983). Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Human Genetics, 64, 388–394. https://doi.org/10.1007/bf00292373
Abstract
Abstract
Abstract
Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome.
Metrics
Additional indexing
Creators (Authors)
- Fraccaro, Marco
- Zuffardi, Orsetta
- Bühler, E
- Schinzel, Albert
- Simoni, G
- Witkowski, R
- Bonifaci, E
- Caufin, Daniele
- Cignacco, G
- Delendi, N
- Gargantini, L
- Losanowa, T
- Marca, L
- Ullrich, E
- Vigi, V
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Publisher DOI
Other Identification Number
Other Identification Number
Other Identification Number
Metrics
Citations
Fraccaro, M., Zuffardi, O., Bühler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., & Vigi, V. (1983). Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Human Genetics, 64, 388–394. https://doi.org/10.1007/bf00292373
