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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
  1. Björn Menten (bjorn.menten{at}ugent.be)
  1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Belgium
    1. Karen Buysse (karen.buysse{at}ugent.be)
    1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Belgium
      1. Farah Zahir (farahz{at}interchange.ubc.ca)
      1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Canada
        1. Jan Hellemans (jan.hellemans{at}ugent.be)
        1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Belgium
          1. Sara Jane Hamilton (sjhamilton{at}cw.bc.ca)
          1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Canada
            1. Teresa Costa (teresa.costa{at}iwk.nshealth.ca)
            1. IWK Health Centre, Halifax, Nova Scotia, Canada, Canada
              1. Carrie Fagerstrom (cfagerst{at}lhs.org)
              1. Legacy Emanuel Children’s Hospital, Portland, Oregon, U.S.A, United States
                1. George Anadiotis (ganadiot{at}lhs.org)
                1. Legacy Emanuel Children’s Hospital, Portland, Oregon, U.S.A, United States
                  1. Daniel Kingsbury (dkingsbu{at}lhs.org)
                  1. Legacy Emanuel Children’s Hospital, Portland, Oregon, U.S.A, United States
                    1. Barbara C McGillivray (bmcgillivray{at}cw.bc.ca)
                    1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Canada
                      1. Marco A Marra (mmarra{at}bcgsc.ca)
                      1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Canada
                        1. Jan M. Friedman (frid{at}interchange.ubc.ca)
                        1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Canada
                          1. Frank Speleman (franki.speleman{at}ugent.be)
                          1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Belgium
                            1. Geert R Mortier (geert.mortier{at}ugent.be)
                            1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Belgium

                              Abstract

                              We report on the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 Mb in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome amongst children with failure to thrive, short stature and learning disabilities.

                              • GRIP1
                              • HMGA2
                              • mental retardation
                              • osteopoikilosis
                              • short stature

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