A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.
Coppola
Antonietta
A
Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy. antoniettacoppola@email.it <antoniettacoppola@email.it>
Striano
Pasquale
P
Gimelli
Stefania
S
Ciampa
Clotilde
C
Santulli
Lia
L
Caranci
Ferdinando
F
Zuffardi
Orsetta
O
Gimelli
Giorgio
G
Striano
Salvatore
S
Zara
Federico
F
D057215:Body Dysmorphic Disorders / Q000150:complications* / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D056916:Segmental Duplications, Genomic / Q000235:genetics*; D055815:Young Adult