TWO SYNDROMES IN THE SAME FAMILY TREE: DOWN AND PRADER-WILLI-LABHART SYNDROMES

<p>The genes mutate either spontaneously or under the influence of mutagenic agents (irradiation, viruses, toxins).<br />The occurrence of genetic syndromes in the scope of one family is pointing more to the inherited than to de novo mutation.<br />Aim of this study was to present two syndromes in the same family tree, occurring subsequently one by one, which carry severe mental retardation and have a poor prognosis and frequently tragic outcome. A case report was given of a patient in<br />whom both pregnancies were completed by birth of the newborns presenting with severe syndromes: the first one with<br />Down's syndrome and the second one with Prader-Willi-Labhart syndrome. The results of investigation point to the necessity of genetic investigations before pregnancy and during pregnancy as early as possible, in order to avoid giving birth to<br />the children with syndromes which bear severe mental retardation and having poor prognosis.</p>