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Duplication of 16q and deletion of 15q

1989; Wiley; Volume: 34; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320340210

1096-8628

William L. Nyhan, James T. Mascarello, Bruce A. Barshop, Diane Doroski, Kurt Hirschhorn,

Genomic variations and chromosomal abnormalities

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.