Pure partial trisomy for long arm of chromosome 9.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy