Aim4q 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.MethodsA 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.ResultsA 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.ConclusionSupplying 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.

Paediatrician who published the first descriptions of many metabolic and neurodegenerative diseases

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