Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
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.
Striano
Pasquale
P
Neuromuscular and Neurodegenerative Disease Unit, "G. Gaslini" Institute, University of Genova, Genova, Italy. sstriano@libero.it
Malacarne
Michela
M
Cavani
Simona
S
Pierluigi
Mauro
M
Rinaldi
Rosanna
R
Cavaliere
Maria Luigia
ML
Rinaldi
Maria Michela
MM
De Bernardo
Carmelilia
C
Coppola
Antonietta
A
Pintaudi
Maria
M
Gaggero
Roberto
R
Grammatico
Paola
P
Striano
Salvatore
S
Dallapiccola
Bruno
B
Zara
Federico
F
Faravelli
Francesca
F
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