Eleonora Fois Fois
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
S. GIGLIO
2003-01-01
Abstract
A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.