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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts

2 Issues per year

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S. Ulusal
  • Corresponding author
  • Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey
  • Email:
/ H. Gürkan
  • Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey
/ Ü. Vatansever
  • Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey
/ K. Kürkçü
  • Burç Genetik Diagnosis Center, Istanbul, Turkey
/ H. Tozkir
  • Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey
/ Ba. Acunaş
  • Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey
Published Online: 2014-03-11 | DOI: https://doi.org/10.2478/bjmg-2013-0036


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


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About the article

Published Online: 2014-03-11

Published in Print: 2013-12-01

Citation Information: Balkan Journal of Medical Genetics, ISSN (Print) 1311-0160, DOI: https://doi.org/10.2478/bjmg-2013-0036. Export Citation

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