STUDY OF THE FREQUENCY OF DOWN SYNDROME IN A NORTH EAST INDIAN POPULATION
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2015, Vol 4, Issue 4
Abstract
Context: Down Syndrome or Trisomy 21, with three sets of chromosome number 21 is the commonest chromosomal abnormality in newborn. There are three types of Trisomy 21: Free Trisomy 21, Translocation Trisomy 21 and Mosaic Trisomy 21. Aims: The study aimed at finding the frequency of Down syndrome and its various cytogenetic types in a population from North East India. Methods and Materials: Karyotyping from G-Banded peripheral lymphocyte of patients with suspected chromosomal abnormality was done from peripheral blood and stained with Giemsa stain as per the Standard Operating Protocol of the Diagnostic Genetic Laboratory (CFDMGD). One to three ml of blood was withdrawn aseptically from each patient. 20-30 spreads were analyzed for each case. For mosaics, 30-50 spreads were studied. The slides were analysed for detection of various chromosomal abnormalities including Down syndrome (Trisomy 21). For the translocation Down Syndrome cases, parents were investigated to determine the parental carrier status. Results: 38 cases of Trisomy 21 were detected. Free Trisomy 21 was found in 92.11% cases, translocation trisomy 21 was seen in 2.63% case and Mosaic Trisomy 21 was seen in 5.26% cases. Male: female ratio was 1.38:1. Conclusions: Knowledge of the cytogenetic types has important clinical implications as it helps clinician/geneticist determine the recurrence risk in subsequent pregnancies and helps couples take an informed decision. This in turn would help in decreasing the load of the disease in society.
Authors and Affiliations
Das Hirak| Assistant Professor, Dept of Anatomy, Comprehensive Facility for Diagnosis and Management of Genetic Diseases (CFDMGD), Assam Medical College, Dibrugarh, Assam, India, Email: ripples2006@rediffmail.com, Kusre Giriraj| Associate Professor, Dept of Anatomy, Comprehensive Facility for Diagnosis and Management of Genetic Diseases (CFDMGD), Assam Medical College, Dibrugarh, Assam, India, Shankarishan Priyanka| Scientist – B, Diagnostic Genetic Lab (CFDMGD), Assam Medical College, Dibrugarh, Assam, India, Nirmolia Tulika| Senior Research Fellow, Diagnostic Genetic Lab (CFDMGD), Assam Medical College, Dibrugarh, Assam, India, Panyang Rita| Assistant Professor of Pediatrics, Genetic OPD (CFDMGD), Assam Medical College, Dibrugarh, Assam, India, Gogoi Arpita| Assistant Professor of Pediatrics, Genetic OPD (CFDMGD), Assam Medical College, Dibrugarh, Assam, India
Keywords
Related Articles
- EP ID EP11518
- DOI 10.5958/2319-5886.2015.00158.7
- Views 244
- Downloads 13
Exposure experience of the families with MS patients to the disease: Struggle for admission of disease
Multiple Sclerosis (MS) is a chronic and degenerative disease of the central nervous cells that upon onset of symptoms makes family faces with serious and disturbing challenges; so that experience of sudden exposure to...
BILATERAL VARIANT OF SCIATIC NERVE EXHIBITING INTRA-PELVIC DIVISION
Context (background): In case of high division of the sciatic nerve in the pelvis its, common peroneal component may pierce the Piriformis muscle. This anatomical variant can explain many clinical findings. Aims: Its ob...
Evaluation nurses' professional behavior and its relationship with organizational culture and commitment in 2015
Professional behavior of nurses is basic concepts which depends on several individual and organizational factors. In recent decades much attention has been given to organizational culture and organizational commitment....
Relationship among Dimensions of Roy Adaptation Model, General Health and Satisfaction with Life in Patients with Parkinson Disease
Parkinson disease (PD) is a chronic, progressive and debilitating disease. This study aimed to determine the relationship between the dimensions of Roy Adaptation Model (RAM) and General Health (GH) and Satisfaction wi...
HYPERTENSION AS AN EMERGING HEALTH PROBLEM AMONGST SCHOOL CHILDREN AND ADOLESCENTS
Introduction: Hypertension is a common non communicable disease in developed countries. But nowadays even in developing countries like India its prevalence is increasing in adults as well as in childhood population. Ob...