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Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome

✍ Scribed by Piccione, Maria; Vecchio, Davide; Salzano, Emanuela; Corsello, Giovanni

Book ID
121903792
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
126 KB
Volume
29
Category
Article
ISSN
1525-5050

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DiGeorge anomaly (DGA) and velo-cardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22qll. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of t