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 range from 1.5 to 10.5Mb. SKI, located at distal 1p36, was deleted in all of the individuals tested who had the syndrome. Deletions in mice have shown phenotypes with some of the features observed in individuals with 1p36 deletion syndrome.
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