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Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
Muhsin Elmas1, Umit Can Yildirim1
1Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.
Abstract:
Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins or infections to genetic disorders. We report clinical, radiological, and molecular genetic investigations of patients with microcephaly from a single center over 5-year period. There were 92 patients with a genetic diagnosis. Based on their genetic diagnosis, we grouped patients into three categories: (1) microcephaly with copy number variations (CNVs), (2) microcephaly with single gene disorders, and (3) microcephaly with aneuploidies. The most common category was aneuploidy in 59% of the patients, followed by single gene disorders in 23% of the patients and CNVs in 18% of the patients. We think that history and physical examination guide physicians to choose the most appropriate genetic testing to identify underlying diagnosis.
Insights
Genetic testing identified the cause of microcephaly in 92 patients. Aneuploidies were the most common cause, followed by single gene disorders and copy number variations (CNVs).
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Microcephaly, a condition of small head size, has diverse causes including genetic factors.
- Accurate etiological diagnosis is crucial for patient management and genetic counseling.
Purpose of the Study:
- To investigate the genetic causes of microcephaly in a cohort of patients.
- To categorize microcephaly based on genetic findings and determine the prevalence of different genetic etiologies.
Main Methods:
- Clinical, radiological, and molecular genetic investigations were performed on 92 patients with microcephaly.
- Patients were categorized into three groups: copy number variations (CNVs), single gene disorders, and aneuploidies.
Main Results:
- Aneuploidies were the most frequent genetic cause, accounting for 59% of diagnoses.
- Single gene disorders were identified in 23% of patients, and CNVs in 18%.
Conclusions:
- Genetic testing is essential for diagnosing microcephaly.
- Aneuploidy is the predominant genetic cause of microcephaly in this cohort, highlighting the importance of chromosomal analysis.
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