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Page 1: INTERRELAŢII GENOTIP-FENOTIP ÎN SINDROMUL DOWNwebbut.unitbv.ro/jmb/JMB 2008 nr.3/01_05 ref - Down.pdf · Referat general J.M.B. INTERRELAŢII GENOTIP-FENOTIP ÎN SINDROMUL DOWN

Referat general J.M.B.

INTERRELAŢII GENOTIP-FENOTIP ÎN

SINDROMUL DOWN

Asist. univ. dr. Sebastian Toma Universitatea „Transilvania” din Braşov,

Facultatea de Medicină 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.

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