Journal
MOLECULAR CYTOGENETICS
Volume 5, Issue -, Pages -Publisher
BMC
DOI: 10.1186/1755-8166-5-17
Keywords
6p deletions; Copy-number variants; Array comparative genomic hybridization
Categories
Funding
- South Carolina Department of Disabilities and Special Needs
- National Institute of Mental Health [MH57840]
- Wellcome Trust
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Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an similar to 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.
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