Authors
L Alison McInnes, Alisa Nakamine, Marion Pilorge, Tracy Brandt, Patricia Jiménez González, Marietha Fallas, Elina R Manghi, Lisa Edelmann, Joseph Glessner, Hakon Hakonarson, Catalina Betancur, Joseph D Buxbaum
Publication date
2010/3/19
Journal
Molecular Autism
Volume
1
Issue
1
Pages
5
Publisher
BioMed Central Ltd
Description
Background
The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number variations (CNVs), have been identified in a significant fraction of individuals with autism spectrum disorders (ASDs). In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval.
Methods
We screened 173 unrelated subjects with ASD from the Central Valley of Costa Rica and 1336 subjects with ASD from 785 independent families registered with the Autism Genetic Resource Exchange (AGRE) for CNVs across 15q24 using oligonucleotide arrays. Rearrangements were confirmed by …
Scholar articles
LA McInnes, A Nakamine, M Pilorge, T Brandt… - Molecular autism, 2010