Aim. Study of genetic pathology burden, both monogenic and chromosomal, of pediatric population of Krasnohrad district of Kharkiv region. Methods. Epidemiological and clinical-genealogical methods have been used. The information on 252 patients aged 0– 17 years from all major sources of their registration has been analyzed. Results. The monogenic pathology burden of pediatric population was 0.28 %, chromosomal disorders burden — 0.13 %, 0.41 % in total. There were 14 nosological forms of single-gene diseases, the most common ones were sensorineural hearing loss (1:1295), congenital glaucoma (1:3884), congenital hypothyroidism (1:3884), ichthyosis (1:3884). For the past ten years there was a change in the spectrum of single-gene pathology in pediatric population of Krasnohrad district. Chromosomal abnormalities in the area were represented by Down syndrome (1:868) and Prader-Willi syndrome (1:7767). Conclusions. The genetic pathology burden of the pediatric population of the Krasnohrad district of Kharkiv region, the spectrum of monogenic and chromosomal pathology, and prevalence of their individual nosological forms are comparable to those in most European countries. Keywords: genetic pathology, prevalence, single-gene diseases, chromosomal disorders, Kharkiv region.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.