caa a22 4500 463250613 CHVBK 20180405153339.0 cr unu---uuuuu 170326e20070401xx s 000 0 eng 10.1007/s10803-006-0196-9 doi (NATIONALLICENCE)springer-10.1007/s10803-006-0196-9 Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism [Elektronische Daten] [Thomas Wassink, Molly Losh, Joseph Piven, Val Sheffield, Elizabeth Ashley, Erik Westin, Shivanand Patil] High-resolution karyotyping detects cytogenetic anomalies in 5-10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations. Springer Science+Business Media, Inc., 2006 Autism nationallicence Chromosomal anomalies nationallicence FISH nationallicence Karyotyping nationallicence Subtelomere nationallicence Wassink Thomas Department of Psychiatry, University of Iowa Carver College of Medicine; Psychiatry Research/MEB, 52242, Iowa City, IA, USA aut Losh Molly Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut Piven Joseph Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut Sheffield Val Department of Pediatrics and the Howard Hughes Medical Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut Ashley Elizabeth Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut Westin Erik Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut Patil Shivanand Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut Journal of Autism and Developmental Disorders Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 37/4(2007-04-01), 703-708 0162-3257 37:4<703 2007 37 10803 https://doi.org/10.1007/s10803-006-0196-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10803-006-0196-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wassink Thomas Department of Psychiatry, University of Iowa Carver College of Medicine; Psychiatry Research/MEB, 52242, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Losh Molly Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut NATIONALLICENCE 700 1- Piven Joseph Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut NATIONALLICENCE 700 1- Sheffield Val Department of Pediatrics and the Howard Hughes Medical Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Ashley Elizabeth Neurodevelopmental Disorders Research Center and Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA aut NATIONALLICENCE 700 1- Westin Erik Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Patil Shivanand Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA aut NATIONALLICENCE 773 0- Journal of Autism and Developmental Disorders Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 37/4(2007-04-01), 703-708 0162-3257 37:4<703 2007 37 10803 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer