Publication: Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
Date
Date
Date
Citations
Mitchell, J., Schinzel, A., Langlois, S., Gillessen-Kaesbach, G., Schuffenhauer, S., Michaelis, R., Abeliovich, D., Lerer, I., Christian, S., Guitart, M., McFadden, D. E., & Robinson, W. P. (1996). Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences. American Journal of Medical Genetics, 65, 133–136. https://doi.org/10.1002/(sici)1096-8628(19961016)65:2<133::aid-ajmg10>3.0.co;2-r
Abstract
Abstract
Abstract
Prader-Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11-q13 or maternal uniparental disomy (UPD) 15. Birth parameters and clinical presentation of 79 confirmed UPD cases and 43 deletion patients were compared in order to test whether any manifestations differ between the two groups. There were no major clinical differences between the two classes analyzed as a whole, other than the presence of hypopigmentation predominantly in the deletion group. However, there was a significant bias in sex-ratio (P < .0
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Mitchell, John
- Schinzel, Albert
- Langlois, Sylvie
- Gillessen-Kaesbach, Gabriele
- Schuffenhauer, Simone
- Michaelis, Ron
- Abeliovich, Dvorah
- Lerer, Isabel
- Christian, Susan
- Guitart, Miriam
- McFadden, Deborah E
- Robinson, Wendy P
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
In collections
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
Other Identification Number
Other Identification Number
Other Identification Number
Metrics
Downloads
Views
Citations
Mitchell, J., Schinzel, A., Langlois, S., Gillessen-Kaesbach, G., Schuffenhauer, S., Michaelis, R., Abeliovich, D., Lerer, I., Christian, S., Guitart, M., McFadden, D. E., & Robinson, W. P. (1996). Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences. American Journal of Medical Genetics, 65, 133–136. https://doi.org/10.1002/(sici)1096-8628(19961016)65:2<133::aid-ajmg10>3.0.co;2-r
