Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: an electroclinical description with literature review
Microdeletions of chromosome 6q are associated with different phenotypes and, to date, about 100 patients have been described in the literature. Despite the lack of a definite phenotype-genotype correlation, Hopkin et al. proposed a classification according to the location of the deletion in the long arm of chromosome 6: proximal (6q11 –q16), interstitial (6q15–q25), and terminal (6q25-qter) [1–3]. Clinically, patients with interstitial deletions usually show facial and body dysmorphisms, variable degrees of developmental delay, limbs and visceral malformations, and, notably, Prader–Willi (PWS)-like features, including obe sity, hyperphagia, and hypotonia [1–3].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Gianni Cutillo, Raffaello Bonacchi, Giordano Cecchetti, Anna Bellini, Marco Vabanesi, Alberto Zambon, Maria Grazia Natali Sora, Cristina Baldoli, Ubaldo Del Carro, Fabio Minicucci, Giovanna F. Fanelli, Massimo Filippi Source Type: research