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

Fiorella Gurrieri, Salvatore Mazza, Giovanni Neri, A Battaglia, E Bertini, A Bellacosa, Mg Pomponi, M Paravatou Petsotas

Risultato della ricerca: Contributo in rivistaArticolo in rivista

91 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1081-1086
Numero di pagine6
RivistaNeurology
Volume48
Stato di pubblicazionePubblicato - 1997

Keywords

  • Adolescent
  • Adult
  • Aneuploidy
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 15
  • Electroencephalography
  • Epilepsy
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability
  • Male
  • Mental Disorders
  • Syndrome

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