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Duplication of 16q and deletion of 15q
W L Nyhan1, J Mascarello, B Barshop
1Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609.
American Journal of Medical Genetics
|October 1, 1989
Abstract:
A patient with distal arthrogryposis, congenital dislocations of the hips, a prominent forehead, epicanthal folds, thin lips, and a poorly defined philtrum was found to have a deletion of 15q and a duplication of 16q. Her mother, maternal grandmother, and great grandmother had a balanced t(15q-, 16q+). The gene for adenine phosphoribosyl transferase was assignable to the 16q22----16qter area that was duplicated.