title: 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.
abstract: 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 pathogenicity is under debate.
authors.affiliation: Grupo de Medicina Xenomica, Centro Nacional de Genotipado - Plataforma de Recursos Biomoleculares y Bioinformaticos - Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Universidade de Santiago de Compostela Santiago de Compostela, Spain.
authors.forename: Ines
authors.initials: I
authors.lastname: Quintela
authors.affiliation: Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica - SERGAS Santiago de Compostela, Spain.
authors.forename: Montse
authors.initials: M
authors.lastname: Fernandez-Prieto
authors.affiliation: Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica - SERGAS Santiago de Compostela, Spain.
authors.forename: Lorena
authors.initials: L
authors.lastname: Gomez-Guerrero
authors.affiliation: Departamento de Psicologia Evolutiva y de la Educacion, Universidade de Santiago de Compostela Santiago de Compostela, Spain.
authors.forename: Mariela
authors.initials: M
authors.lastname: Resches
authors.affiliation: Unidad de Neurologia Pediatrica, Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela Santiago de Compostela, Spain.
authors.forename: Jesus
authors.initials: J
authors.lastname: Eiris
authors.affiliation: Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica - SERGAS Santiago de Compostela, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros
authors.affiliation: Grupo de Medicina Xenomica, Centro Nacional de Genotipado - Plataforma de Recursos Biomoleculares y Bioinformaticos - Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Universidade de Santiago de Compostela Santiago de Compostela, Spain ; Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica - SERGAS Santiago de Compostela, Spain ; Center of Excellence in Genomic Medicine Research, King Abdulaziz University Jeddah, Saudi Arabia.
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
keywords: 6q14.1-q15 microdeletion; Xp22.31 gain; autistic disorder; intellectual disability