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G479(P) A virtual genetics clinic on 4q deletion syndrome
  1. EM Strehle1,
  2. P Middlemiss2,
  3. S Hickey3,
  4. D Kushwaha4,
  5. J Lin4
  1. 1Institute of Genetic Medicine, Newcastle-Upon-Tyne, UK
  2. 2Unique, The Rare Chromo Disorder Group, Oxted, UK
  3. 3Nationwide Children’s Hospital, Ohio, USA
  4. 4Rare Genomics Institute, Hanover, USA


Aim 4q deletion syndrome is a rare structural chromosomal abnormality where a small segment on the long arm of chromosome 4 is missing. Affected children have minor facial and digital dysmorphisms, cardiac and skeletal defects, growth retardation and developmental delay. The aim of this pilot project was the development of an audio-visual education session for health professionals and lay people that provides useful information on this genetic disorder.

Methods A 1-hour podcast was recorded via telephone conferencing. Subsequently, a silent slide show including a relevant case presentation and general information on current genetic testing was prepared and added to the podcast.

Results A panel of 5 experts in the field of genetics discussed questions that were submitted by 22 families affected by 4q deletion syndrome. In all, 38 people listened to the 1-hour podcast on the freely accessible file-hosting site The topics discussed covered clinical presentation, diagnosis, treatment and prognosis of this condition.

Conclusion Supplying patients, parents and other health professionals with high-quality medical information in a timely manner is an imporant task for clinical geneticists. Modern communication technology combined with expert panel discussions can be an adjunct tool in the field of genetic counselling.

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