Biochemical and Genetic Evaluation of Downs Syndrome Family: Carrier and Trait Detection

Author(s)

Dutta, A. K., Maharana, J.

Author's Affiliation

Abstract

All the life forms are manifestation of genetic codes and the intricate relations between several human diseases and genetics is known since long. Genetic defects are manifested at either chromosomal level or phenotypic level. Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. Down’s syndrome is one of the commonest genetic abnormality viable with life its incidence evoked significant concern and research into its etiological factors need not be emphasized “the study deal particularly with pedigree analysis of Down’s cases with special attention to associated spontaneous pregnancy loss in Down-baby’s mother”. Selected cases of known Down syndrome & their chromosomal abnormalities constitute an important part of genetic problems and are one of the most specific causes for genetic referral. 20 Patients has been subjected for pedigree analysis and genetic counseling to understand the risk factor and phenotypic etiology in the generation. The present study is based on the etiological factors known for Down syndrome, but has its own significance on the basis of genetic counseling, pedigree analysis, maternal age, cytogenetic analysis. This piece of work is an attempt to understand the phenomenon and genetic involvement of the genetic disorder with reference to Down’s syndrome.

Keywords

Down’s Sample, Counseling, Pedigree, Lymphocyte Culture, GTG Banding, Karyotyping

Cite This Article

Dutta, A. K., & Maharana, J. (2014). Biochemical and Genetic Evaluation of Downs Syndrome Family: Carrier and Trait Detection. International Journal for Pharmaceutical Research Scholars (IJPRS), 3(1), 95-100.