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...

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Detalles Bibliográficos
Autores principales: Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B., Gyftodimou, Yolanda, Manolakos, Emmanouil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287824/
https://www.ncbi.nlm.nih.gov/pubmed/25606410
http://dx.doi.org/10.1016/j.mgene.2014.03.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287824/
https://www.ncbi.nlm.nih.gov/pubmed/25606410
http://dx.doi.org/10.1016/j.mgene.2014.03.004

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