{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:16:39Z","timestamp":1791274599955,"version":"4.1.0"},"reference-count":12,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1055\/s-0040-1721138","type":"journal-article","created":{"date-parts":[[2020,11,19]],"date-time":"2020-11-19T22:08:40Z","timestamp":1605823720000},"page":"110-116","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5626-2160","authenticated-orcid":false,"given":"Muhsin","family":"Elmas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9368-8689","authenticated-orcid":false,"given":"Umit Can","family":"Yildirim","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,11,19]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/dmcn.12425","article-title":"Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature","volume":"56","author":"M von der Hagen","year":"2014","journal-title":"Dev Med Child Neurol"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.spen.2009.07.001","article-title":"Genetics and biology of microcephaly and lissencephaly","volume":"16","author":"G H Mochida","year":"2009","journal-title":"Semin Pediatr Neurol"},{"key":"ref3","first-page":"51","volume-title":"Developmental and perinatal brain diseases","author":"H 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Cordes","year":"1994","journal-title":"Pediatrics"},{"issue":"09","key":"ref13","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1136\/jmg.2004.027706","article-title":"ASPM mutations identified in patients with primary microcephaly and seizures","volume":"42","author":"J Shen","year":"2005","journal-title":"J Med Genet"},{"key":"ref14","first-page":"1978","volume-title":"VarSome: the human genomic variant search engine","author":"C Kopanos","year":"2019"}],"container-title":["Journal of Pediatric 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