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Authors: Muhsin Elmas , Umit Can Yildirim

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Abstract

Background: Macrocephaly is a condition where the head circumference is larger than the 97th percentile or 2 standard deviations. It can be a harmless trait in benign familial macrocephaly or can be seen as a component of some pathologic condition. In this article, we aimed to uncover the genetic background and clinical presentation of macrocephaly. Methods: In this retrospective study, we selected macrocephaly patients with a definitive genetic diagnosis, among 2,000 patients who were admitted to our clinic between 2014 and 2019. The data were accessed from archive. Results: The genetic testing results showed that the most common genetic causes of macrocephaly in the patients were achondroplasia (25%), neurofibromatosis type 1 (12.5%), Sotos syndrome type 1 (12.5%), and Cowden syndrome (12.5%). Conclusion: Several congenital conditions, chromosomal anomalies, and molecular mutations may cause macrocephaly. A combination of good clinical history, physical examination, and genetic testing plays a vital role in the diagnosis process.

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Keywords: Chromosomal microarray analysis, copy number variants, macrocephaly, mutation, whole exome sequencing

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