De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
Academic Article
Publication Date:
2003
Short description:
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities / Giglio, S.. - 117:(2003), pp. 207-211.
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.
Iris type:
1.1 Articolo in rivista
Keywords:
chromosome rearrangements; mental retardation; axillary pterigium; camptodactily
List of contributors: