A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome.
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.
Department of Psychiatry, University of Kansas Medical Center, Kansas City, Kansas, United States; Department of Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States.
Devin M
DM
Cox
Department of Psychiatry, University of Kansas Medical Center, Kansas City, Kansas, United States; Department of Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States.
Merlin G
MG
Butler
7p22.2 duplication; dysmorphic features; microarray analysis; mild intellectual disability