The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

A. Battaglia, F. Gurrieri, E. Bertini, A. Bellacosa, M. G. Pomponi, M. Paravatou-Petsotas, S. Mazza, G. Neri

Research output: Contribution to journalArticlepeer-review

Abstract

The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader- Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.

Original languageEnglish
Pages (from-to)1081-1086
Number of pages6
JournalNeurology
Volume48
Issue number4
Publication statusPublished - Apr 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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