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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| 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 |
| Author: | Quintela García, Inés Fernández Prieto, Montserrat Gómez Herrero, Lorena Resches Zlotnik, Mariela Eirís Puñal, Jesús Manuel Barros Angueira, Francisco Carracedo Álvarez, Ángel María |
| Affiliation: | Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría Universidade de Santiago de Compostela. Departamento de Psicoloxía Evolutiva e da Educación |
| Subject: | 6q14.1-q15 microdeletion | Autistic disorder | Intellectual disability | Xp22.31 gain | |
| Date of Issue: | 2015 |
| Publisher: | Wiley |
| Citation: | Clinical Case Reports 2015; 3( 6): 415– 423 |
| 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 |
| Publisher version: | https://doi.org/10.1002/ccr3.255 |
| URI: | http://hdl.handle.net/10347/21614 |
| DOI: | 10.1002/ccr3.255 |
| ISSN: | 2050-0904 |
| 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 License |
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Except where otherwise noted, this item's license is described as © 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 License