PT  - JOURNAL ARTICLE
AU  - Mason, M K
AU  - Spencer, D A
AU  - Rutter, A
TI  - A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).
AID  - 10.1136/jmg.12.3.310
DP  - 1975 Sep 01
TA  - Journal of Medical Genetics
PG  - 310--314
VI  - 12
IP  - 3
4099  - http://jmg.bmj.com/content/12/3/310.short
4100  - http://jmg.bmj.com/content/12/3/310.full
SO  - J Med Genet1975 Sep 01; 12
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.