title: Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
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.
authors.affiliation: Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado, Plataforma de Recursos Biomoleculares y Bioinformaticos, Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.
authors.forename: Ines
authors.initials: I
authors.lastname: Quintela
authors.affiliation: Grupo de Medicina Xenomica-USC, CIBERER, Fundacion Publica Galega de Medicina Xenomica-SERGAS, Santiago de Compostela, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros
authors.affiliation: Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela, Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.affiliation: Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado, Plataforma de Recursos Biomoleculares y Bioinformaticos, Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.|Grupo de Medicina Xenomica-USC, CIBERER, Fundacion Publica Galega de Medicina Xenomica-SERGAS, Santiago de Compostela, Spain.|King Abdulaziz University, Center of Excellence in Genomic Medicine Research, Jeddah, Saudi Arabia.
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.affiliation: Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela, Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain.
authors.forename: Jesus
authors.initials: J
authors.lastname: Eiris
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002898:Chromosomes, Human, Pair 8; D056915:DNA Copy Number Variations; D019066:Facies; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009006:Monosomy; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome
keywords: 8q21.11 microdeletion syndrome; 8q21.11-q21.13 microdeletion; SNP array; dysmorphism; intellectual disability