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EnglishA 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.
| 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 |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Battisti_.pdf | Post-print | NON PUBBLICO - Accesso privato/ristretto | Administrator Richiedi una copia |
http://hdl.handle.net/11365/24773
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