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.
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http://hdl.handle.net/11365/24773
Titolo: | De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. |
Autori: | |
Anno: | 2003 |
Rivista: | |
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. |
Handle: | http://hdl.handle.net/11365/24773 |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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