Elmas Muhsin, Yildirim Umit Can
Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.
J Pediatr Genet. 2020 Nov 19;11(2):110-116. doi: 10.1055/s-0040-1721138. eCollection 2022 Jun.
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.
小头畸形是一种畸形特征，其特点是头围小于同年龄、性别和种族平均水平两个标准差以上。病因有多种，从环境毒素或感染到遗传疾病。我们报告了一个单一中心在5年期间对小头畸形患者进行的临床、放射学和分子遗传学调查。有92例患者得到了基因诊断。根据他们的基因诊断，我们将患者分为三类：（1）伴有拷贝数变异（CNV）的小头畸形，（2）伴有单基因疾病的小头畸形，（3）伴有非整倍体的小头畸形。最常见的类别是非整倍体，占患者的59%，其次是单基因疾病，占患者的23%，CNV占患者的18%。我们认为病史和体格检查指导医生选择最合适的基因检测以确定潜在诊断。
