RT Journal Article
SR Electronic
T1 A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 310
OP 314
DO 10.1136/jmg.12.3.310
VO 12
IS 3
A1 Mason, M K
A1 Spencer, D A
A1 Rutter, A
YR 1975
UL http://jmg.bmj.com/content/12/3/310.abstract
AB A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a balanced translocation between chromosomes 1 and 9 and must have, in addition, had a non-disjunction of her normal and her deleted No. 9 in order to produce the unbalanced state in her daughter.