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 kiwi6.com. 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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