Monsomy 1p36 LPU020

Monosomy 1p36 is the most common terminal deletion syndrome involving 1 in 10,000 births and is characterised by developmental delay, growth abnormalities and craniofacial dysmorphism. Deletions vary in size, however the gene SKI (Ski oncogene) is deleted in all of the individuals tested who had the syndrome. The mouse homologue of SKI has been shown to be involved in neural tube development and muscle differentiation, causing phenotypes that resemble some of the features observed in individuals with 1p36 deletion syndrome when deleted. It is for this reason that Cytocell has targeted the SKI gene for the microdeletion probe product.