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

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

Authors: Muhsin Elmas, Umit Can Yildirim.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1594283408

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.

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


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2021. All Rights Reserved.

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


Authors
Muhsin Elmas
Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
PubMed articlesGoogle scholar articles

Umit Can Yildirim
Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey
PubMed articlesGoogle scholar articles


Correspondence to:
. Muhsin Elmas,Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey; drmelmas@gmail.com

Publication history
Received 09 Jul 2020
Revised 22 Aug 2020
Accepted 09 Sep 2020
Published online 28 Sep 2020
Published in print 30 Sep 2020

How to cite this article

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: January 19, 2021]. 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 January 19, 2021]; 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


Click the icon of the social media platform on which you would like to share this article.