A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

Abstract

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.

Statistics

0200400'76'79'83'87'91'95'99'03'07'11'15
Citations per Year

336 Citations

Semantic Scholar estimates that this publication has 336 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Mason1975ACO, title={A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).}, author={Margaret K Mason and Donald A. Spencer and Alison Rutter}, journal={Journal of medical genetics}, year={1975}, volume={12 3}, pages={310-4} }