Article
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
American journal of medical genetics. Part A - 15 Sept 2006
Striano Pasquale, Malacarne Michela, Cavani Simona, Pierluigi Mauro, Rinaldi Rosanna, Cavaliere Maria Luigia, Rinaldi Maria Michela, De Bernardo Carmelilia, Coppola Antonietta, Pintaudi Maria, Gaggero Roberto, Grammatico Paola, Striano Salvatore, Dallapiccola Bruno, Zara Federico, Faravelli Francesca
Abstract excerpt
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,...
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