De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features

We report on a 27 month old boy presenting with psychomotor delay and dysmorphic features, mainly mild facial asymmetry, prominent cup-shaped ears, long eyelashes, open mouth appearance and slight abnormalities of the hands and feet. Array comparative genomic hybridization revealed a 393 kb microdel...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Meta Gene
Prif Awduron: Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B., Gyftodimou, Yolanda, Manolakos, Emmanouil
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2014
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287824/
https://ncbi.nlm.nih.gov/pubmed/25606410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.03.004
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