Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype.
A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.
D002675:Child, Preschool; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*; D014314:Trisomy