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Novel deletions of 14q11.2 associated with mental retardation and similar minor anomalies in three children
  1. Farah Zahir (farahz{at}interchange.ubc.ca)
  1. Department of Medical Genetics, University of British Columbia, Canada
    1. Helen Firth (helen.firth{at}cam.ac.uk)
    1. Department of Medical Genetics, Cambridge University, United Kingdom
      1. Agnes Baross (abaross{at}bcgsc.ca)
      1. BC Cancer Agency Genome Sciences Center, Canada
        1. Allen Delaney (adelaney{at}bcgsc.ca)
        1. BC Cancer Agency Genome Sciences Center, Canada
          1. Patrice Eydoux (peydoux{at}cw.bc.ca)
          1. Department of Pathology and Laboratory Medicine, Children's and Women's Health Center of BC, Canada
            1. William Gibson (wtgibson{at}cmmt.ubc.ca)
            1. Department of Medical Genetics, University of British Columbia, Canada
              1. Sylvie Langlois (slanglois{at}cw.bc.ca)
              1. Department of Medical Genetics, University of British Columbia, Canada
                1. Howard Martin (howard.martin{at}addenbrookes.nhs.uk)
                1. Department of Medical Genetics, Cambridge University, United Kingdom
                  1. Lionel Willat (lionel.willat{at}addenbrookes.nhs.uk)
                  1. Department of Medical Genetics, Cambridge University, United Kingdom
                    1. Marco Marra (mmarra{at}bcgsc.ca)
                    1. BC Cancer Agency Genome Sciences Center, Canada
                      1. Jan M Friedman (frid{at}interchange.ubc.ca)
                      1. Department of Medical Genetics, University of British Columbia, Canada

                        Abstract

                        Introduction: We report novel de novo submicroscopic deletions of chromosome 14q11.2 in three children with idiopathic mental retardation and common dysmorphic features.

                        Results: Vancouver Case 5566 carries a ~100 kb deletion and Vancouver Case 8326 carries a ~1.6 Mb deletion. The DECIPHER database revealed a third case, DECIPHER #126, who has a ~1.1 Mb deletion.

                        Discussion: Child 5566's deletion overlaps that of DECIPHER #126, and both of these deletions lie entirely within that of Child 8326. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip, and similar auricular anomalies. The minimal common deletion region on chromosome 14q11.2 is only ~35 kb (from 20.897 to 20.932, UCSC hg18, NCBI build 36.1, March 2006) and includes only two genes, SUPT16H and CHD8, which are good candidate genes for the phenotypes. The non-recurrent breakpoints of these cases, the presence of normal copy number variants in the region, and the local genomic structure support the notion that this region has reduced stability.

                        • 14q11.2.
                        • CHD8
                        • Mental retardation
                        • Microdeletion
                        • SUPT16H

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