Study of Chromosome 11 Deletions in Children Without Jacobsen Syndrome
Author Information
Author(s): Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong, Gail E Graham, Patrick MacLeod, Millan S Patel, Jane Hurlburt, Jeanette J A Holden, Suzanne M E Lewis, Evica Rajcan-Separovic
Primary Institution: University of British Columbia
Hypothesis
Can submicroscopic deletions in chromosome 11q24-25 contribute to intellectual disability in children without Jacobsen syndrome?
Conclusion
Two individuals with intellectual disability were found to have deletions in the 11q24-25 region, which are typically associated with Jacobsen syndrome, but they did not exhibit the syndrome's classic features.
Supporting Evidence
- Five cases with submicroscopic abnormalities were identified in the study.
- The deletions were confirmed to be de novo in the subjects.
- Neither subject exhibited the typical features of Jacobsen syndrome despite having deletions in the associated region.
Takeaway
The study looked at kids with learning difficulties and found some had tiny missing pieces of DNA on chromosome 11, which usually causes a specific syndrome, but these kids didn't show the usual signs of that syndrome.
Methodology
The study used high-resolution array comparative genomic hybridization (array-CGH) to analyze chromosomal abnormalities in children with idiopathic intellectual disability.
Limitations
The study focused on a small number of subjects and may not represent all cases of intellectual disability.
Participant Demographics
The participants were chromosomally normal children with idiopathic intellectual disability and congenital abnormalities.
Digital Object Identifier (DOI)
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