Document Details

Document Type : Article In Journal 
Document 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
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
 
Document Language : English 
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. 
ISSN : 2050-0904 
Journal Name : Clin Case Rep 
Volume : 3 
Issue Number : 6 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Wednesday, April 27, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Ines QuintelaQuintela, Ines Investigator  
Montse Fernandez-PrietoFernandez-Prieto, Montse Researcher  
Lorena Gomez-GuerreroGomez-Guerrero, Lorena Researcher  
Mariela ReschesResches, Mariela Researcher  
Jesus Francisco BarrosBarros, Jesus FranciscoResearcher  
Angel CarracedoCarracedo, Angel Researcher  

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