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

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.

Citation

E Stathopulu, C Mackie Ogilvie, F A Flinter. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. American journal of medical genetics. Part A. 2003 Jun 15;119A(3):363-6

Mesh Tags

PMID: 12784307

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