de novo inversion-duplication of 2q35-2qter without growth retardation
- PMID: 1610122
de novo inversion-duplication of 2q35-2qter without growth retardation
Abstract
A 7-year-old mentally retarded child was found to be the carrier of a de novo inversion-duplication of 2q35-2qter. His phenotype corresponded to that which is classically described in cases of partial trisomy of the long arm of chromosome 2; however, he did not show the growth retardation which usually characterizes this and other aneuploidy syndromes.