A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathog...

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Detalles Bibliográficos
Autores principales: Quintela, Ines, Fernandez-Prieto, Montse, Gomez-Guerrero, Lorena, Resches, Mariela, Eiris, Jesus, Barros, Francisco, Carracedo, Angel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498854/
https://www.ncbi.nlm.nih.gov/pubmed/26185640
http://dx.doi.org/10.1002/ccr3.255

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