TY - JOUR
T1 - Duplication of 16q and deletion of 15q
AU - Nyhan, W. L.
AU - Mascarello, J.
AU - Barshop, B.
AU - Doroski, D.
AU - Hirschhorn, K.
PY - 1989
Y1 - 1989
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0024419114&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320340210
DO - 10.1002/ajmg.1320340210
M3 - Article
C2 - 2816995
AN - SCOPUS:0024419114
SN - 0148-7299
VL - 34
SP - 183
EP - 186
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -