A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome

J Pediatr Genet. 2015 Mar;4(1):34-7. doi: 10.1055/s-0035-1554980.

Abstract

We report a 14-year-old Hispanic male with a microduplication of the chromosome 7p22.2 band detected through microarray analysis. He had a history of developmental delay and mild intellectual disability, asthma, myopia, proportionate short stature, dysmorphic features, and Achilles tendon release. This appears to be the first report of a patient with a microduplication of only the chromosome 7p22.2 band and is now the smallest reported duplication to date to include features in common with the chromosome 7p22 duplication syndrome.

Keywords: 7p22.2 duplication; dysmorphic features; microarray analysis; mild intellectual disability.

Publication types

  • Case Reports