2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

Abstract excerpt

BACKGROUND: The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic, low-set ears. To date, comparative genomic hybridization has identified this deletion in 38 patients....

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