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Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome
- Source :
- American Journal of Medical Genetics Part A. 167:1369-1373
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
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. © 2015 Wiley Periodicals, Inc.
- Subjects :
- Male
Heterozygote
medicine.medical_specialty
DNA Copy Number Variations
Monosomy
Wide nasal bridge
Intellectual Disability
Intellectual disability
Genetics
Humans
Medicine
Abnormalities, Multiple
Copy-number variation
Child
Genetics (clinical)
Oligonucleotide Array Sequence Analysis
business.industry
Cytogenetics
Facies
Syndrome
Microdeletion syndrome
medicine.disease
Dermatology
Facial appearance
Phenotype
Male patient
business
Chromosomes, Human, Pair 8
SNP array
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 167
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....a7d09e22df2f50b957147990323c3215