Document Details

Document Type : Article In Journal 
Document Title :
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome
 
Document Language : English 
Abstract : The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and facial dysmorphism. We describe here a male patient of 9 years 9 months of age with moderate intellectual disability and dysmorphic facial features. A high resolution copy number variation analysis, performed with the Affymetrix Cytogenetics Whole-Genome 2.7 M SNP array, allowed the identification of a heterozygous 7.069 Mb microdeletion at chromosome 8q21.11-q21.13. Clinical comparison of our patient with literature shows many similarities. However, the whole facial appearance of our patient, especially the elongated rather than rounded face and the absence of a wide nasal bridge and epicanthal folds, confers him a phenotype similar only to a subset, but not to the majority, of the hitherto described patients. 
ISSN : 1552-4833 
Journal Name : Am J Med Genet A 
Volume : 167 
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  
Francisco BarrosBarros, Francisco Researcher  
Manuel Castro-GagoCastro-Gago, Manuel Researcher  
Angel CarracedoCarracedo, Angel Researcher  
Jesus EirisEiris, Jesus Researcher  

Files

File NameTypeDescription
 38706.pdf pdf 

Back To Researches Page