Medical genetics in Romania.

The Genetics of Mental Retardation

“…16 genes were identified, so far, in the region 7q11.23. [31] The deleted region includes about 25 genes that probably contribute the manifestations of the syndrome. ELN gene deletion responsible for the synthesis of elastin, is associated with connective and cardiovascular anomalies, which are characteristic for the syndrome (supravalvular aortic stenosis, supravalvular pulmonary stenosis).…”

“…The conditions associated with MR are recognizable on the basis of a distinctive clinical presentation and they can be considerate separate nosological entities, even if the causative gene or locus is unknown.This distinction has mostly practical value. Gene function in syndromic XLMR(Adapted after: Chellyet a.2006,[ 31]). …”