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Case Reports
. 1975 Sep;12(3):310-4.
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-)

M K Mason, D A Spencer, A Rutter
Case Reports

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

M K Mason et al. 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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References

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