A CASE OF TREACHER COLLINS SYNDROME
Ulusal S1,*, Gürkan H1, Vatansever Ü2, Kürkçü K3, Tozkir H1, Acunaş BA2
*Corresponding Author: Dr. Selma Ulusal, Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey; Tel.: +90-284-235-76-42-2346; Gsm: +90-533-2504116; Fax: +90-284-235-27-30; E-mail: selmaulusal@trakya.edu.tr
page: 77
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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.



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