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...

Full description

Saved in:

Bibliographic Details
Main Authors:	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.
Format:	Artigo
Language:	Inglês
Published:	S. Karger AG 2010
Subjects:	Original Article
Online Access:	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
Tags:	Add Tag No Tags, Be the first to tag this record!

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Similar Items