Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

Am J Med Genet A. 2015 Jun;167(6):1369-73. doi: 10.1002/ajmg.a.37038. Epub 2015 Apr 21.


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.

Keywords: 8q21.11 microdeletion syndrome; 8q21.11-q21.13 microdeletion; SNP array; dysmorphism; intellectual disability.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child
  • Chromosomes, Human, Pair 8
  • DNA Copy Number Variations
  • Facies
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Monosomy*
  • Oligonucleotide Array Sequence Analysis
  • Phenotype*
  • Syndrome

Supplementary concepts

  • Chromosome 8 deletion