May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Goldenhar Syndrome and Cri-du-chat Syndrome: A Contiguous Gene Deletion Syndrome?
Author Affiliations & Notes
  • K. Lim
    Ophthalmology, Cardiff Eye Unit, University Hospital of Wales, Cardiff, United Kingdom
  • Y.F. Choong
    Ophthalmology, Cardiff Eye Unit, University Hospital of Wales, Cardiff, United Kingdom
  • P. Watts
    Ophthalmology, Cardiff Eye Unit, University Hospital of Wales, Cardiff, United Kingdom
  • E. Little
    Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
  • L. Beck
    Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
  • Footnotes
    Commercial Relationships  K. Lim, None; Y.F. Choong, None; P. Watts, None; E. Little, None; L. Beck, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1499. doi:
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      K. Lim, Y.F. Choong, P. Watts, E. Little, L. Beck; Goldenhar Syndrome and Cri-du-chat Syndrome: A Contiguous Gene Deletion Syndrome? . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1499.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To report the association between Goldenhar syndrome and cri-du-chat syndrome. Methods:A full term male infant born to non-consanguineous parents was noted to have the clinical features of both Goldenhar and cri-du-chat syndromes. Dysmorphic features included bilateral pre-auricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid and left hemifacial microsomia. In addition, he had microagnathia, epicanthic folds and a high-pitched cat-like cry characteristic of cri-du-chat syndrome. Chromosomal analysis and fluorescence in-situ hybridisation studies (FISH) were performed. Results: Chromosomal analysis and fluorescence in-situ hybridisation (FISH) studies revealed an unbalanced karyoptype with a terminal deletion of segment p14 on the short arm of chromosome 5, consistent with the cri-du-chat locus. Conclusions: An association between Goldenhar syndrome and cri-du-chat syndrome has not been previously reported. Chromosome 5p14 may contain a gene implicated in Goldenhar Syndrome.

Keywords: genetics • clinical (human) or epidemiologic studies: bio 
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