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

2015; Wiley; Volume: 167; Issue: 6 Linguagem: Inglês

10.1002/ajmg.a.37038

1552-4833

Inés Quintela, Francisco Barros, Manuel Castro‐Gago, Ángel Carracedo, Jesús Manuel Eirís Puñal,

Chromosomal and Genetic Variations

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.