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Autor:
A. A. M. Haagen, A. J. H. Hamers, E. J. M. Raven, W.H. Loneus, J. C. M. Albrechts, C. E. M. De Die-Smulders, J. J. M. Engelen, Ute Moog
Publikováno v:
Clinical Genetics. 46:423-429
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstr