title: Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.
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.
authors.affiliation: Medway Maritime Hospital, Kent, UK.
authors.forename: E
authors.initials: E
authors.lastname: Stathopulu
authors.forename: C Mackie
authors.initials: CM
authors.lastname: Ogilvie
authors.forename: F A
authors.initials: FA
authors.lastname: Flinter
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome