A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).
- 1 September 1975
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 12 (3) , 310-314
- https://doi.org/10.1136/jmg.12.3.310
Abstract
A case of partial trisomy 9 is described, confirming 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. The mother had a balanced translocation between chromosomes 1 and 9 and probably also had a non-disjunction of her normal and her delected No. 9 in order to produce the unbalanced state in her daughter.This publication has 10 references indexed in Scilit:
- Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q−) in three generationsThe Journal of Pediatrics, 1974
- A New Case of Trisomy for the Short Arm of No. 9 ChromosomeJournal of Medical Genetics, 1973
- Analyse de la trisomie 9p par dénaturation ménagéePublished by Springer Nature ,1973
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocationPublished by Springer Nature ,1971
- [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].1970
- [Digital and palmar dermatoglyphics in normal patients of the population of São Paulo].1969
- [Partial C trisomy through translocation t(Cp-;Gp-)].1969
- An intersexual infant with an extra chromosome.1968
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960