Nyhan W L, Mascarello J, Barshop B, Doroski D, Hirschhorn K
Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609.
Am J Med Genet. 1989 Oct;34(2):183-6. doi: 10.1002/ajmg.1320340210.
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.
