Duplication of 16q and deletion of 15q.
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.
Nyhan
W L
WL
Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609.
Mascarello
J
J
Barshop
B
B
Doroski
D
D
Hirschhorn
K
K
D000228:Adenine Phosphoribosyltransferase / Q000235:genetics*; D000649:Amniocentesis; D001176:Arthrogryposis / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D005810:Multigene Family; D010375:Pedigree; D010430:Pentosyltransferases / Q000235:genetics*; D011247:Pregnancy; D014178:Translocation, Genetic
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase