PT  - JOURNAL ARTICLE
AU  - Battaglia, A.
AU  - Gurrieri, F.
AU  - Bertini, E.
AU  - Bellacosa, A.
AU  - Pomponi, M. G.
AU  - Paravatou-Petsotas, M.
AU  - Mazza, S.
AU  - Neri, G.
TI  - The inv dup(15) syndrome
AID  - 10.1212/WNL.48.4.1081
DP  - 1997 Apr 01
TA  - Neurology
PG  - 1081--1086
VI  - 48
IP  - 4
4099  - http://n.neurology.org/content/48/4/1081.short
4100  - http://n.neurology.org/content/48/4/1081.full
SO  - Neurology1997 Apr 01; 48
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.