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The behavioral phenotype of the idic(15) syndrome
Author(s) -
Battaglia Agatino,
Parrini Barbara,
Tancredi Raffaella
Publication year - 2010
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30281
Subject(s) - angelman syndrome , tetrasomy , hypotonia , intellectual disability , genetics , autism , speech delay , locus (genetics) , gene duplication , aneuploidy , autism spectrum disorder , supernumerary , muscle hypotonia , psychology , chromosome , biology , developmental psychology , anatomy , gene
Idic(15) syndrome is a neurogenetic disorder clinically delineated by early central hypotonia, developmental delay and intellectual disability (ID), epilepsy, absent or very poor speech, and autistic or autistic‐like behavior. It is due to the presence of a supernumerary marker chromosome formed by the inverted duplication of proximal chromosome 15, resulting in tetrasomy 15p and partial tetrasomy 15q, and containing the Prader–Willi/Angelman syndrome critical region (PWS/ASCR). The vast majority of these idic(15) derives from the two homologous maternal chromosomes at meiosis. To better define the behavior profile, we studied 22 idic(15) children (15 males and 7 females) observed at our institute between 1986 and 2010, and present, in detail, case studies of five of them. We have been able to perform standardized and semi‐standardized measures of intelligence, and psychopathology in only 13 of our 22 patients, due to the limitations of chronological age, and to the severity of ID (ranging from mild–moderate, in 15%, to severe–profound, in 85% of our sample). The results show a distinct developmental profile in idic(15) patients, that may provide a behavioral signature for autism spectrum disorder (ASD)/ASD‐like arising from the susceptibility locus on proximal 15q; and suggest that idic(15) individuals are not “true autistic,” but distinct “autistic‐like” persons with high score in the third ADOS‐G and ADI‐R area. © 2010 Wiley‐Liss, Inc.