CINECA IRIS Institutional Research Information System
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
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.
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 interni: | DOTTI, MARIA BATTISTI, CARLA FEDERICO, ANTONIO |
| Anno: | 2003 |
| Rivista: | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
| 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 | Dimensione | Formato | Tipologia | Licenza | |
|---|---|---|---|---|---|---|
| Battisti_.pdf | 717.79 kB | Adobe PDF | Post-print | NON PUBBLICO - Accesso privato/ristretto | Administrator Richiedi una copia |
Copyright © 2017