A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management

The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype.