My SciELO
Services on Demand
Article
Indicators
- Cited by SciELO
Related links
- Similars in SciELO
Share
Revista Cubana de Medicina General Integral
On-line version ISSN 1561-3038
Abstract
ROJAS BARCENAS, Rosalí et al. Characterization of Patients with Genetic Diseases. Rev Cubana Med Gen Integr [online]. 2021, vol.37, n.2 Epub June 01, 2021. ISSN 1561-3038.
Introduction:
Genetic diseases are due to developmental genetic variations that require medical, educational and social help, or combinations of these.
Objective:
To characterize, clinically and epidemiologically, patients with genetic diseases.
Method:
Descriptive and cross-sectional study. The universe was made up of the 521 patients assessed in the genetic counseling consultation of Mayarí Municipality and the sample was represented by the 216 patients with genetic diseases belonging to 26 de Julio University Polyclinic of the health area of Mayarí, during the year 2018.
Results:
The female sex predominated (53.24%), together with the age group 41-50 years (18.06%), monogenic diseases (58.8%), patients with Down syndrome (20.37%), and patients with no family history of diseases (54.63%).
Conclusions:
Patients with mental disabilities, with postnatal diagnosis and with more than twenty years of diagnosis prevailed. The largest number did not undergo treatment. Patients fully linked to society were a minority, as well as those with a family history of genetic disease.
Keywords : congenital genetic diseases; Down syndrome; cytogenetic analysis; intellectual disability.