[Distal trisomy 14q associated with agenesis of the corpus callosus and truncus arteriosus due to the maternal translocation t(5;14)(q13;q23q32) (author's transl)].
D061085:Agenesis of Corpus Callosum; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy; D014339:Truncus Arteriosus, Persistent / Q000235:genetics*
Trisomie 14q distale associée à l'agénésie du corps calleux et au tronc artériel commun, due à la translocation maternelle t(5;14)(q13;q23q32).