A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).
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.
D002869:Chromosome Aberrations; D002875:Chromosomes / Q000032:analysis; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D012727:Sex Characteristics; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy