Genetic and clinical approach to macrocephaly: a 5-year single-center study

Muhsin Elmas; Umit Can Yildirim

doi:10.24911/JBCGenetics/183-1594283408

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Original Article
Online Published: 28 Sep 2020

JBCGenetics. 2020; 3(2): 54-59

doi: 10.24911/JBCGenetics/183-1594283408

Genetic and clinical approach to macrocephaly: a 5-year single-center study

Muhsin Elmas, Umit Can Yildirim.

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.

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

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Pubmed Style

Elmas M, Yildirim UC. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBCGenetics. 2020; 3(2): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Web Style

Elmas M, Yildirim UC. Genetic and clinical approach to macrocephaly: a 5-year single-center study. https://www.jbcgenetics.com/?mno=95298 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1594283408

AMA (American Medical Association) Style

Elmas M, Yildirim UC. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBCGenetics. 2020; 3(2): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Vancouver/ICMJE Style

Elmas M, Yildirim UC. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBCGenetics. (2020), [cited November 14, 2024]; 3(2): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Harvard Style

Elmas, M. & Yildirim, . U. C. (2020) Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBCGenetics, 3 (2), 54-59. doi:10.24911/JBCGenetics/183-1594283408

Turabian Style

Elmas, Muhsin, and Umit Can Yildirim. 2020. Genetic and clinical approach to macrocephaly: a 5-year single-center study. Journal of Biochemical and Clinical Genetics, 3 (2), 54-59. doi:10.24911/JBCGenetics/183-1594283408

Chicago Style

Elmas, Muhsin, and Umit Can Yildirim. "Genetic and clinical approach to macrocephaly: a 5-year single-center study." Journal of Biochemical and Clinical Genetics 3 (2020), 54-59. doi:10.24911/JBCGenetics/183-1594283408

MLA (The Modern Language Association) Style

Elmas, Muhsin, and Umit Can Yildirim. "Genetic and clinical approach to macrocephaly: a 5-year single-center study." Journal of Biochemical and Clinical Genetics 3.2 (2020), 54-59. Print. doi:10.24911/JBCGenetics/183-1594283408

APA (American Psychological Association) Style

Elmas, M. & Yildirim, . U. C. (2020) Genetic and clinical approach to macrocephaly: a 5-year single-center study. Journal of Biochemical and Clinical Genetics, 3 (2), 54-59. doi:10.24911/JBCGenetics/183-1594283408

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