The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.

Durmaz B. , Alpman A. , Pariltay E. , Akgul M., Ataman E., Kirbiyik O., ...More

Genetic testing and molecular biomarkers, vol.13, no.2, pp.163-6, 2009 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1089/gtmb.2008.0074
  • Title of Journal : Genetic testing and molecular biomarkers
  • Page Numbers: pp.163-6


Our study aimed to review and evaluate the referral reasons of patients at Department of Pediatric Genetics, Ege University, between 1998 and 2006. In total, 2342 patients were referred to the pediatrics outpatient clinic for dysmorphological examination and suspected genetic conditions. The files were evaluated retrospectively, and they were grouped into five categories. The subgroups included mental retardation (MR)-multiple congenital anomalies and isolated anomalies in 1472 (62.85%), syndromes that may be associated with cytogenetic abnormalities in 634 (27.07%), suspected single-gene disorders in 134 (5.72%), suspected microdeletion syndromes in 48 (2.05%), and other genetic conditions comprising complex multifactorial disorders and ambiguous genitalia in 54 (2.31%). These data have provided useful information on the frequency of different groups of genetic diseases, genetic causes of MR, and the feasibility of genetic services. In conclusion, genetic service should be encouraged among physicians and patients in addition to the diagnosis, prognosis, and disease management efforts.