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We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by fluorescent in situ hybridization experiments revealed the disruption of the GPD2 gene at the 2q24.1 region. This gene encodes the mitochondrial glycerophosphate...
Le travail de l’Unité de dépistage et d’évaluation pour les troubles précoces du développement du Centre hospitalo-universitaire de Caen vise à dépister le plus précocement possible les enfants autistes de l’ensemble de la région administrative. L’ambition de l’équipe qui anime cette Unité est de poser le diagnostic de syndrome autistique avant l’âge de 30 mois chez les enfants qui en sont atteints,...
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