Ontology highlight
ABSTRACT:
SUBMITTER: Balciuniene J
PROVIDER: S-EPMC1852738 | biostudies-literature | 2007 May
REPOSITORIES: biostudies-literature
Balciuniene Jorune J Feng Ningping N Iyadurai Kelly K Hirsch Betsy B Charnas Lawrence L Bill Brent R BR Easterday Mathew C MC Staaf Johan J Oseth LeAnn L Czapansky-Beilman Desiree D Avramopoulos Dimitri D Thomas George H GH Borg Ake A Valle David D Schimmenti Lisa A LA Selleck Scott B SB
American journal of human genetics 20070320 5
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of LCRs, and demonstrate that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disease. Fine mapping of the deletions in members of all ...[more]