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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts


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A CASE OF TREACHER COLLINS SYNDROME

1 / H. Gürkan1 / Ü. Vatansever2 / K. Kürkçü3 / H. Tozkir1 / Ba. Acunaş2

1Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey

2Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey

3Burç Genetik Diagnosis Center, Istanbul, Turkey

This content is open access.

Citation Information: Balkan Journal of Medical Genetics. Volume 16, Issue 2, Pages 77–80, ISSN (Print) 1311-0160, DOI: 10.2478/bjmg-2013-0036, March 2014

Publication History

Published Online:
2014-03-11

ABSTRACT

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation

Keywords: TCOF1 gene; Treacher Collins syndrome (TCS); Mandibulofacial dysostosis; De novo mutation

References

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