EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

European Journal of Pharmaceutical and Medical Research (EJPMR) has indexed with various reputed international bodies like : Google Scholar , Indian Science Publications , InfoBase Index (In Process) , SOCOLAR, China , Research Bible, Fuchu, Tokyo. JAPAN , International Society for Research activity (ISRA) , Scientific Indexing Services (SIS) , Polish Scholarly Bibliography , Global Impact Factor (GIF) (Under Process) , Universal Impact Factor , International Scientific Indexing (ISI), UAE  , Index Copernicus , CAS (A Division of American Chemical Society) USA (Under Process) , Directory of Open Access Journal (DOAJ, Sweden, in process) , UDLedge Science Citation Index , CiteFactor , Directory Of Research Journal Indexing (DRJI) , Indian citation Index (ICI) , Journal Index (JI, Under Process) , Directory of abstract indexing for Journals (DAIJ) , Open Access Journals (Under Process) , Impact Factor Services For International Journals (IFSIJ) , Cosmos Impact Factor , Jour Informatics (Under Process) , Eurasian Scientific Journal Index (ESJI) , International Innovative Journal Impact Factor (IIJIF) , Science Library Index, Dubai, United Arab Emirates , Pubmed Database [NLM ID: 101669306] (Under Process) , IP Indexing (Under Process) , 

 ISSN 2394-3211

Impact Factor: 4.897

 ICV - 79.57

Abstract

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.


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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (Under Process)