IDFOW

Full Study Name

Imprinting Disorders – finding out why?

Lead Site

Southampton

Chief Investigator

Dr I Karen Temple

Study Status

recruiting

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

For more information click here