INTERRELAŢII GENOTIP-FENOTIP ÎN SINDROMUL 2008 nr.3/01_05 ref - Down.pdf · Referat general J.M.B. INTERRELAŢII GENOTIP-FENOTIP ÎN SINDROMUL DOWN Asist. univ. dr. Sebastian Toma
Post on 04-Feb-2018
Referat general J.M.B.
INTERRELAII GENOTIP-FENOTIP N
Asist. univ. dr. Sebastian Toma Universitatea Transilvania din Braov,
Facultatea de Medicin The Down syndrome is a result of multiple
genetical factors with implications in the childs development, that is often associated with mental retardness. In 95% of the cases, Down syndrome is in the form of trisomy 21. In 5% of the cases, the cause of the genetic disease is a translocation or a mosaicism. The prenatal screening tests followed by cytological tests allow the decrease of the incidence of apparition of some cromosomial syndroams and the reduction of human and material costs that, for the socialization and maintenance of a good health state for these patients, is high.