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

E Stathopulu, C Mackie Ogilvie, F A Flinter

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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. (C) 2003 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)363 - 366
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume119A
Issue number3
DOIs
Publication statusPublished - 15 Jun 2003

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