Full Study Name

Imprinting Disorders – finding out why?

Lead Site


Chief Investigator

Dr I Karen Temple

Study Status


Main Aims
  • more about why epigenetic events occur
  • whether imprinting aberrations involve more than one location simultaneously
  • the phenotype accompanying genotypes if abnormalities are found
  • development of robust tests for imprinting disorders for NHS service
Inclusion Criteria
  • unexplained proportionate short stature <-2SD or 3 or more of the following features:- ;
  • overgrowth at birth for gestational age – weight or length>97th centile;
  • small for gestational age weight or length <3rd centile;
  • asymmetric growth obvious clinically;
  • hypotonia;
  • umbilical developmental defect;
  • macroglossia;
  • micrognathia;
  • hypogonadism or genital abnormality;
  • unexplained hyper or hypoglycaemia;
  • unexplained postnatal excessive weight or height (>98th centile);
  • central obesity;
  • scoliosis;
  • verbal dyspraxia;
  • monozygous twinning;
  • conceived by assisted reproductive technology;
  • excessive anxiety

AND must have normal routine investigations including chromosome and/or array analysis and no known cause for the problems

OR a known imprinting disorder diagnosed or confirmed in an NHS genetics laboratory

Open Sites

North West London, Bristol, Leeds, Belfast, Glasgow, Manchester, Cardiff, Sheffield, Aberdeen, Edinburgh, Leicester, St George’s

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