Mosaic trisomy 12 is a rare genetic condition with a highly variable phenotype.Clinical features associated with this condition include developmental delay,intellectual disability,dysmorphic facial features,short stat...Mosaic trisomy 12 is a rare genetic condition with a highly variable phenotype.Clinical features associated with this condition include developmental delay,intellectual disability,dysmorphic facial features,short stature,pigmentary dysplasia,complex congenital heart defects and hypotonia(Table 1).To date,20 patients have been described in which mosaic trisomy 12 was observed in both extraembryonic and neonatal/infant tissues.展开更多
基金Open Access funding enabled and organized by Projekt DEAL.
文摘Mosaic trisomy 12 is a rare genetic condition with a highly variable phenotype.Clinical features associated with this condition include developmental delay,intellectual disability,dysmorphic facial features,short stature,pigmentary dysplasia,complex congenital heart defects and hypotonia(Table 1).To date,20 patients have been described in which mosaic trisomy 12 was observed in both extraembryonic and neonatal/infant tissues.
