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    A CASE OF TREACHER COLLINS SYNDROME
    (Macedonian Acad Sciences Arts, 2013) Ulusal, S.; Gurkan, H.; Vatansever, U.; Kurkcu, K.; Tozkir, H.; Acunas, B. A.
    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.