Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus

Authors :: Verkerk, A.J.H.M. (Annemieke)
Schot, R. (Rachel)
Waterschoot, L. (Laura) van
Douben, H. (Hannie)
Poddighe, P. (Pino)
Leguin, M. (Maarten)
Vries, L.S. (Linda) de
Terhal, P. (Paulien)
Hahnemann, J.M.D. (Johanne)
Coo, I.F.M. (René) de
Wit, M.C.Y. (Marie Claire) de
Wafelman, L.S. (Leontien)
Garavelli, L. (Livia)
Dobyns, W.B. (William)
Spek, P.J. (Peter) van der
Klein, J.E.M.M. (Annelies) de
Mancini, G.M.S. (Grazia)
Verkerk, A.J.H.M. (Annemieke)
Schot, R. (Rachel)
Waterschoot, L. (Laura) van
Douben, H. (Hannie)
Poddighe, P. (Pino)
Leguin, M. (Maarten)
Vries, L.S. (Linda) de
Terhal, P. (Paulien)
Hahnemann, J.M.D. (Johanne)
Coo, I.F.M. (René) de
Wit, M.C.Y. (Marie Claire) de
Wafelman, L.S. (Leontien)
Garavelli, L. (Livia)
Dobyns, W.B. (William)
Spek, P.J. (Peter) van der
Klein, J.E.M.M. (Annelies) de
Mancini, G.M.S. (Grazia)
Publication Year :: 2010
Abstract: 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;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-li

Database :: OAIster
Notes :: American Journal of Medical Genetics. Part A vol. 152 no. 6, pp. 1488-1497, English
Publication Type :: Electronic Resource
Accession number :: edsoai.ocn929970165
Document Type :: Electronic Resource
Full Text :: https://doi.org/10.1002.ajmg.a.33408

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