RT Journal Article
SR Electronic
T1 The inv dup(15) syndrome
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1081
OP 1086
DO 10.1212/WNL.48.4.1081
VO 48
IS 4
A1 Battaglia, A.
A1 Gurrieri, F.
A1 Bertini, E.
A1 Bellacosa, A.
A1 Pomponi, M. G.
A1 Paravatou-Petsotas, M.
A1 Mazza, S.
A1 Neri, G.
YR 1997
UL http://n.neurology.org/content/48/4/1081.abstract
AB 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 (PWSAS) 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.