This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Cerminara, C. Articles by Curatolo, P. Search for Related Content PubMed PubMed Citation Articles by Cerminara, C. Articles by Curatolo, P. Pubmed/NCBI databases Medline Plus Health Information Epilepsy Genetics Home Reference Social Bookmarking                         What's this?

Deletion of the Long Arm of Chromosome 6: Report on a New Case With Intractable Epilepsy

Department of Neuroscience Division of Pediatric Neurology "Tor Vergata" University of Rome Rome, Italy, caterinacerminara{at}hotmail.com

Roberta Bombardieri, MD

Department of Neuroscience Division of Pediatric Neurology "Tor Vergata" University of Rome Rome, Italy

Mariangela Pinci, MD

Department of Neuroscience Division of Pediatric Neurology "Tor Vergata" University of Rome Rome, Italy

Stefano Seri, MD

Department of Neuroscience Division of Pediatric Neurology "Tor Vergata" University of Rome Rome, Italy

Paolo Curatolo, MD

Department of Neuroscience Division of Pediatric Neurology "Tor Vergata" University of Rome Rome, Italy

Interstitial deletions in the terminal region of chromosome 6 are rare. The deletion most often occurs de novo. Mental retardation is always described. The most characteristic manifestations are microcephaly, micrognathia, hypotonia, typical facial appearance, strabismus, and congenital heart defects. Although this chromosomal syndrome does not appear to have a distinctive phenotype, epileptic seizures are uncommon in affected individuals. We report on a novel finding in a patient with the 46 XX karyotype and del(6)(q25-q26) who developed intractable epilepsy. (J Child Neurol 2006;21:527—531; DOI 10.2310/7010.2006.00112).

Journal of Child Neurology, Vol. 21, No. 6, 527-531 (2006)
DOI: 10.1177/08830738060210061501


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?