التفاصيل البيبلوغرافية
| العنوان: |
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology |
| المؤلفون: |
Gold, JA, Ruth, C, Osann, K, Flodman, P, McManus, B, Lee, HS, Donkervoort, S, Khare, M, Roof, E, Dykens, E, Driscoll, DJ, Butler, MG, Heinemann, J, Cassidy, S, Kimonis, VE |
| المصدر: |
Gold, JA; Ruth, C; Osann, K; Flodman, P; McManus, B; Lee, HS; et al.(2014). Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genetics in Medicine, 16(2), 164-169. doi: 10.1038/gim.2013.97. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/6wm9x0cb |
| بيانات النشر: |
eScholarship, University of California, 2014. |
| سنة النشر: |
2014 |
| مصطلحات موضوعية: |
congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, nervous system diseases |
| الوصف: |
Purpose: Prader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome. Methods: Data on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed. Results: The proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively. Conclusion: This study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants. © 2014 American College of Medical Genetics and Genomics. |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=od_______325::533e07103c173a4456dccab7b8b894a0
http://www.escholarship.org/uc/item/6wm9x0cb |
| حقوق: |
OPEN |
| رقم الأكسشن: |
edsair.od.......325..533e07103c173a4456dccab7b8b894a0 |
| قاعدة البيانات: |
OpenAIRE |
