Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
| العنوان: | Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles |
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| المؤلفون: | Michael J. Crowley, E. Christopher Partridge, Dorret I. Boomsma, Teresita Díaz de Ståhl, Antoinet C.J. Gijsbers, Uwe Menzel, Carl E.G. Bruder, Andrzej Poplawski, Robin Andersson, Gert-Jan B. van Ommen, Karin Wirdefeldt, Stephen W. Erickson, Jan Komorowski, Chiquito J. Crasto, Johan T. den Dunnen, Nancy L. Pedersen, David B. Allison, Johanna Sandgren, Desiree von Tell, Jan P. Dumanski, Hemant K. Tiwari, Arkadiusz Piotrowski |
| المساهمون: | Biological Psychology |
| المصدر: | American Journal of Human Genetics, 82(3), 763-771. Cell Press Bruder, C E G, Piotrowski, A, Gijsbers, A A C J, Anderson, R, Erickson, S, Diaz de Stahl, T, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, E C, Tiwari, H, Allison, D B, Komorowski, J, van Ommen, G J B, Boomsma, D I, Pedersen, N L, den Dunnen, J T, Wirdefeldt, K & Dumanski, J P 2008, ' Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. ', American Journal of Human Genetics, vol. 82, no. 3, pp. 763-771 . https://doi.org/10.1016/j.ajhg.2007.12.011Test |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Male, Netherlands Twin Register (NTR), Concordance, Monozygotic twin, Biology, 03 medical and health sciences, 0302 clinical medicine, Report, Genotype, Genetic variation, Genetics, Chromosomes, Human, Humans, Genetics(clinical), Genetic variability, Genetics (clinical), 030304 developmental biology, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Genetic Variation, Neurodegenerative Diseases, DNA, Twins, Monozygotic, Twin study, Phenotype, Human genetics, Female, 030217 neurology & neurosurgery |
| الوصف: | The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics. © 2008 The American Society of Human Genetics. |
| اللغة: | English |
| تدمد: | 0002-9297 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c442e17aab1cb31320e3f2a5ea72df1Test https://research.vu.nl/en/publications/d32b3502-8c41-49e1-9a20-cea0509d4808Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9c442e17aab1cb31320e3f2a5ea72df1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00029297 |
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