Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome

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Abstract
We report a young man with phenotypical features suggestive of Lujan–Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a ‘breathy, raspy’ voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan–Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5.