Genetic and clinical approach to macrocephaly: a 5-year single-center study
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 ba...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2020-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=95298 |
| _version_ | 1827938661560221696 |
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| author | Muhsin Elmas Umit Can Yildirim |
| author_facet | Muhsin Elmas Umit Can Yildirim |
| author_sort | Muhsin Elmas |
| collection | DOAJ |
| description | 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. [JBCGenetics 2020; 3(2.000): 54-59] |
| first_indexed | 2024-03-13T08:41:09Z |
| format | Article |
| id | doaj.art-815ab002a6814828802eaf1934868f2b |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:09Z |
| publishDate | 2020-12-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-815ab002a6814828802eaf1934868f2b2023-05-30T11:47:11ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2020-12-0132545910.24911/JBCGenetics/183-159428340895298Genetic and clinical approach to macrocephaly: a 5-year single-center studyMuhsin Elmas0Umit Can Yildirim1Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, TurkeyBackground: 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. [JBCGenetics 2020; 3(2.000): 54-59]http://www.ejmanager.com/fulltextpdf.php?mno=95298chromosomal microarray analysiscopy number variantsmacrocephalymutationwhole exome sequencing |
| spellingShingle | Muhsin Elmas Umit Can Yildirim Genetic and clinical approach to macrocephaly: a 5-year single-center study Journal of Biochemical and Clinical Genetics chromosomal microarray analysis copy number variants macrocephaly mutation whole exome sequencing |
| title | Genetic and clinical approach to macrocephaly: a 5-year single-center study |
| title_full | Genetic and clinical approach to macrocephaly: a 5-year single-center study |
| title_fullStr | Genetic and clinical approach to macrocephaly: a 5-year single-center study |
| title_full_unstemmed | Genetic and clinical approach to macrocephaly: a 5-year single-center study |
| title_short | Genetic and clinical approach to macrocephaly: a 5-year single-center study |
| title_sort | genetic and clinical approach to macrocephaly a 5 year single center study |
| topic | chromosomal microarray analysis copy number variants macrocephaly mutation whole exome sequencing |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=95298 |
| work_keys_str_mv | AT muhsinelmas geneticandclinicalapproachtomacrocephalya5yearsinglecenterstudy AT umitcanyildirim geneticandclinicalapproachtomacrocephalya5yearsinglecenterstudy |