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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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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author Quintela, Ines
Fernandez-Prieto, Montse
Gomez-Guerrero, Lorena
Resches, Mariela
Eiris, Jesus
Barros, Francisco
Carracedo, Angel
author_facet Quintela, Ines
Fernandez-Prieto, Montse
Gomez-Guerrero, Lorena
Resches, Mariela
Eiris, Jesus
Barros, Francisco
Carracedo, Angel
author_sort Quintela, Ines
collection PubMed
description 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.
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spelling pubmed-44988542015-07-16 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 Quintela, Ines Fernandez-Prieto, Montse Gomez-Guerrero, Lorena Resches, Mariela Eiris, Jesus Barros, Francisco Carracedo, Angel Clin Case Rep Case Reports 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. John Wiley & Sons, Ltd 2015-06 2015-04-09 /pmc/articles/PMC4498854/ /pubmed/26185640 http://dx.doi.org/10.1002/ccr3.255 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Quintela, Ines
Fernandez-Prieto, Montse
Gomez-Guerrero, Lorena
Resches, Mariela
Eiris, Jesus
Barros, Francisco
Carracedo, Angel
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Reports
url 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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