De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
- 15 January 2003
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 117A (3) , 207-211
- https://doi.org/10.1002/ajmg.a.10149
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.Keywords
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