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Array-CGH |
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| Authors: | Dr. A. Caliebe K. Platzer L. Argyriou S. Bens Y. Hellenbroich N. Husemeyer I. Nagel J.I. Martin-Subero P. Sporns I. Stefanova H. T?nnies I. Vater J. Weimer R. Siebert G. Gillessen-Kaesbach |
| Affiliation: | 1. Institut f??r Humangenetik, Christian-Albrechts-Universit?t zu Kiel und UKSH, Campus Kiel, Schwanenweg 24, 24105, Kiel, Deutschland 2. Institut f??r Humangenetik, Universit?t L??beck, L??beck, Deutschland 3. Klinik f??r Gyn?kologie und Geburtshilfe, Christian-Albrechts-Universit?t zu Kiel und UKSH, Campus Kiel, Kiel, Deutschland |
| Abstract: | We report on our experience with array CGH analysis on 1310 samples over the last 5?years. The number of copy number variants (CNV) rises as the resolution of the arrays increases; however, the relevance of some of these findings is difficult to evaluate. Deletion or duplication in 16p11.2 was the most frequently diagnosed pathogenic CNV. Clinically relevant findings which were not directly connected to the query were observed in about 0.2% of patients. |
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