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- Title
Pure partial trisomy for long arm of chromosome 9.
- Authors
Faed, M; Robertson, J; Brown, S; Smail, P J; Muckhart, R D
- 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.
- Publication
Journal of medical genetics, 1976, Vol 13, Issue 3, p239
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.13.3.239