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Aim: Mandibulofacial dysostosis type Guion-Almeida was characterized by microcephaly, a characteristic craniofacial appearance with upslanting palpebral fissures, microtia, preauricular and buccal tags and intellectual disability. EFTUD2 gene was found to cause a very distinct condition with phenotypic overlap with Treacher Collins syndrome, the mandibulofacial dysostosis type Guion-Almeida (MFDGA). Methods: G-banding karyotype performed using peripheral blood. TCOF1, POLR1C and POLR1D genes associated with Treacher Collins syndrome were studied by NGS method. Chromosomal microarray analysis was performed on the proband and her parents using Agilent Technologies 4x180K SurePrint G3 Human CGH+SNP Platform. Results: A 5 years old female referred us with Treacher Collins syndrome. She was born at 37th weeks of gestation with CS as weight 3200g. Her parents were nonconsanguineous and healthy. She had a 10 years old healty brother. The patient had speech delay, history of 4-5 seizures, convulsion and hypotonia. She had a dysmorphic features including long philtrum, broad nasal bridge, broad nasal root, bulbous nose, short neck, dysplastic ear, low nape hairline, micrognathia/retrognathia. The echocardiogram revealed as normal, cranial MR revealed arachnoid cysts. Hearing test results were normal. Chromosomal analysis and NGS analysis were evaluated as normal. A 207 kb copy number variation arr[GRCh37]17q21.31(42753313-42960557)×1 was identified in our patient. Her parents arrayCGH analyses revealed as normal. Conclusion: Our array CGH finding was reported extremely rare previously. We anticipate that the findings of our patient are due to deletion of 17q21.31 and loss of function of the EFTUD2 gene. [ABSTRACT FROM AUTHOR]