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Case Reports
. 1976 Jun;13(3):239-42.
doi: 10.1136/jmg.13.3.239.

Pure partial trisomy for long arm of chromosome 9

M Faed, J Robertson, S Brown, P J Smail, R D Muckhart
Case Reports

Pure partial trisomy for long arm of chromosome 9

M Faed et al. J Med Genet. 1976 Jun.

Abstract

A case of a 4-year-old boy with trisomy of the long arm of chromosome 9 is described (46,XY, der (9), t (9;9) (q32;q12)). The trisomy is probably the result of a translocation of the long arm of the chromosome from one homologue to the other in a parental gonad. The clinical features of the child which include severe developmental retardation, bird-like facies, tapered fingers, and flexion contractures of the legs are similar to those of the few cases described of trisomy of the whole chromosome.

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References

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