A RARE CASE OF A LIVEBORN WITH FREE, DE-NOVO AND PARTIAL TRISOMY-12 AND AN UNUSUAL PHENOTYPE

Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p a nd trisomy 12q is well described in the literature. We report here, th e rare occurrence of a liveborn with free and de novo trisomy 12, albe it not the whole chromosome. The clinical description of this infant i ncludes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by tri somy 12q13, which to our knowledge has not been reported in a trisomy before.