Case Reports
doi: 10.1136/jmg.12.3.310.
A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-)
- PMID: 1177287
- PMCID: PMC1013298
- DOI: 10.1136/jmg.12.3.310
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Case Reports
A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-)
J Med Genet.
1975 Sep.
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.
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