Duplication of 16q and deletion of 15q
- 1 October 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 34 (2) , 183-186
- https://doi.org/10.1002/ajmg.1320340210
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.Keywords
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