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.
EnglishArray-based comparative genomic hybridization is a routine technology that helps clinicians in the diagnostic evaluation of individuals presenting with developmental delay or malformation anomalies. With this technique, several patients affected by microdeletion 2p15-p16.1 have been reported and this anomaly has been recognized as a distinct syndrome. In contrast, clinical features of patients with microduplication in the same region have been registered mainly in clinical and genetic data-bases and to date just a single patient has been reported in detail in the literature. A 12-year-old boy with 2p15-p16.1 microduplication presented with moderate neurodevelopment delay, epileptic seizures, behavioral disturbances, and minor dysmorphic features. The role of 2p15-p16.1 duplication in this case, and the others published in data-bases with a similar molecular duplication, are discussed.
| Titolo: | Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome? | |
| Autori interni: | ||
| Data di pubblicazione: | 2019 | |
| Rivista: | ||
| Handle: | http://hdl.handle.net/20.500.11769/363327 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
Copyright © 2022