THE HOSPITAL BASED CYTOGENETIC STUDY OF FREQUENCY OF CHROMOSOMAL ABNORMALITY IN OPD PATIENTS WITH SUSPECTED GENETIC DISORDERS

Ksheersagar D.D. and Paikrao V.M.*

ABSTRACT

Background: Chromosomal abnormalities are remarkably common in human reproduction. Meiotic non disjunction is the major mechanism responsible for the majority of aneuploidies in early embryos. Down syndrome and Edward syndrome are autosomal whereas Turner syndrome and Klinefelter syndrome are common sex chromosome aneuploidies. Aims and objective:[1] To confirm chromosomal abnormality in OPD patients.[2] To assess the referral rate from hospital for suspected genetic disorders. Methods and Material: This observational study performed during Jan 2012 to Dec 2016 on OPD Patients with suspected genetic disorders referred to Genetic Lab of dept. of Anatomy. After informed consent was obtained, data regarding age, sex, clinical features, family history, socio-economical status and attitude towards disorders were recorded. Cytogenetic investigations were carried out using peripheral blood samples on all 838 referred cases. The standard Karyotyping method was used to confirm chromosomal abnormality. The collected data was compared with the globally accepted statistics of chromosomal abnormality. Result: The frequency of suspected patients with genetic disorder in 1000 referred patients was 1.88, 1.00, 0.45, and 0.26 from Pediatrics, Gynecology, Medicine and Surgery Department respectively where the total incidence was 0.73. Out of 838 referred cases 77 were of Down syndrome, 28 Turner Syndrome, 8 Kleinfelter syndrome and 3 Edward syndrome. Conclusion: Chromosomal abnormality is prevalent in the visiting patients of our hospital although the frequency rate still low as compared to published data of the other hospitals which may be due to low referral from of our region.

Keywords: Down syndrome; Turner syndrome; Klinefelter syndrome; Edward syndrome; OPD patients.