De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.
Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.
D002111:Calcaneus / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D002658:Developmental Disabilities / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*