Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral prob...

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Autori principali: Oegema, R., de Klein, A., Verkerk, A.J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P.J., van der Laar, I., Dobyns, W.B., van der Spek, P.J., Lequin, M.H., de Coo, I.F.M., de Wit, M.-C.Y., Wessels, M.W., Mancini, G.M.S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2010
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957846/
https://ncbi.nlm.nih.gov/pubmed/21031080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320113
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