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Center of Excellence In Genomic Medicine Research
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 Type
Dr Grade
Email
Ines Quintela
Quintela, Ines
Investigator
Francisco Barros
Barros, Francisco
Researcher
Manuel Castro-Gago
Castro-Gago, Manuel
Researcher
Angel Carracedo
Carracedo, Angel
Researcher
Jesus Eiris
Eiris, Jesus
Researcher
Files
File Name
Type
Description
38706.pdf
pdf
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