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Am J Med Genet A. 2003 Jun 15;119A(3):363-6.

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

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  • 1Medway Maritime Hospital, Kent, UK.


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.

Copyright 2003 Wiley-Liss, Inc.

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