Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q1...

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Main Authors: Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.
Format: Artigo
Language:Inglês
Published: 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2908594/
https://ncbi.nlm.nih.gov/pubmed/20503325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33408
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