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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
  1. Björn Menten1,
  2. Karen Buysse1,
  3. Farah Zahir2,
  4. Jan Hellemans1,
  5. Sara J Hamilton2,
  6. Teresa Costa3,
  7. Carrie Fagerstrom4,
  8. George Anadiotis4,
  9. Daniel Kingsbury4,
  10. Barbara C McGillivray2,
  11. Marco A Marra2,
  12. Jan M Friedman2,
  13. Frank Speleman1,
  14. Geert Mortier1
  1. 1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  2. 2Department of Medical Genetics, University of British Columbia, Vancouver, Canada
  3. 3IWK Health Centre, Halifax, Nova Scotia, Canada
  4. 4Legacy Emanuel Children’s Hospital, Portland, Oregon, USA
  1. Correspondence to:
 Geert Mortier MD
 PhD, Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Gent, Belgium; geert.mortier{at}


This report presents 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 the 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 megabases (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 among children with failure to thrive, short stature and learning disabilities.

  • FISH, fluorescence in situ hybridisation
  • Mb, megabase
  • osteopoikilosis
  • short stature
  • mental retardation
  • HMGA2
  • GRIP1

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  • Published Online First 12 January 2007

  • Parental/guardian informed consent was obtained for publication of figure 1.