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

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dc.contributor.affiliationUniversidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatríagl
dc.contributor.affiliationUniversidade de Santiago de Compostela. Departamento de Psicoloxía Evolutiva e da Educación
dc.contributor.authorQuintela García, Inés
dc.contributor.authorFernández Prieto, Montserrat
dc.contributor.authorGómez Herrero, Lorena
dc.contributor.authorResches Zlotnik, Mariela
dc.contributor.authorEirís Puñal, Jesús Manuel
dc.contributor.authorBarros Angueira, Francisco
dc.contributor.authorCarracedo Álvarez, Ángel
dc.date.accessioned2020-04-21T21:01:08Z
dc.date.available2020-04-21T21:01:08Z
dc.date.issued2015
dc.description.abstractWe 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 debategl
dc.description.peerreviewedSIgl
dc.identifier.citationClinical Case Reports 2015; 3( 6): 415– 423gl
dc.identifier.doi10.1002/ccr3.255
dc.identifier.issn2050-0904
dc.identifier.urihttp://hdl.handle.net/10347/21614
dc.language.isoenggl
dc.publisherWileygl
dc.relation.publisherversionhttps://doi.org/10.1002/ccr3.255gl
dc.rights© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial Licensegl
dc.rights.accessRightsopen accessgl
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/
dc.subject6q14.1-q15 microdeletiongl
dc.subjectAutistic disordergl
dc.subjectIntellectual disabilitygl
dc.subjectXp22.31 gaingl
dc.titleA 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 gaingl
dc.typejournal articlegl
dc.type.hasVersionVoRgl
dspace.entity.typePublication
relation.isAuthorOfPublicationc17a7576-01b8-48cb-9f8e-3d0a1cfc970a
relation.isAuthorOfPublication82cda0bc-af07-4524-9c5e-2761614a82c5
relation.isAuthorOfPublication.latestForDiscoveryc17a7576-01b8-48cb-9f8e-3d0a1cfc970a

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