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, Aatonietta Coppola, Maria Pintaudi, Roberto Gaggero, Paola Grammatico, Salvatore Striano, Bruno Dallapiccola, Federico Zara, Francesca Faravelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1944-1949
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number18
Publication statusPublished - Sep 15 2006


  • 6q subtelomeric
  • Epilepsy
  • FISH
  • Mental retardation
  • Subtelomeric deletions

ASJC Scopus subject areas

  • Genetics(clinical)


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