title: Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
abstract: Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four de novo, one as a result of an unbalanced translocation) and determined the size of the deletion ranging from 3 to 13 Mb. Our patients showed a recognizable phenotype including mental retardation, characteristic facial appearance, and a distinctive clinico-neuroradiological picture. Focal epilepsy with consistent electroencephalographic features and with certain brain anomalies on neuroimaging studies should suggest 6q terminal deletion. The awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality.
authors.affiliation: Neuromuscular and Neurodegenerative Disease Unit, "G. Gaslini" Institute, University of Genova, Genova, Italy. sstriano@libero.it
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Rosanna
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Maria Luigia
authors.initials: ML
authors.lastname: Cavaliere
authors.forename: Maria Michela
authors.initials: MM
authors.lastname: Rinaldi
authors.forename: Carmelilia
authors.initials: C
authors.lastname: De Bernardo
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Maria
authors.initials: M
authors.lastname: Pintaudi
authors.forename: Roberto
authors.initials: R
authors.lastname: Gaggero
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype