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. (c) 2006 Wiley-Liss, Inc.
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases / Pasquale, Striano; Michela, Malacarne; Simona, Cavani; Mauro, Pierluigi; Rosanna, Rinaldi; Maria Luigia, Cavaliere; Maria Michela, Rinaldi; Carmelilia De, Bernardo; Antonietta, Coppola; Maria, Pintaudi; Roberto, Gaggero; Grammatico, Paola; Salvatore, Striano; Bruno, Dallapiccola; Federico, Zara; Francesca, Faravelli. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 140A:18(2006), pp. 1944-1949. [10.1002/ajmg.a.31435]
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
GRAMMATICO, Paola;
2006
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. (c) 2006 Wiley-Liss, Inc.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
