Carlos Silvera Redondo, Camilo Andrés Avendaño Capriles, David Fernández Sánchez, Ricardo David Espinosa, Ana Sofía Acostamadiedo Marx
Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype. We report the case of a patient who presented with distinctive signs and symptoms such as delayed psychomotor development, severe postnatal delay, dolichocephaly, polyotia, and ocular hypertelorism. Even though all cases with a chromosome 19 deletion do not present in the same way, they still share some clinical manifestations that should be considered, which prompted us to present a summary of the available literature on the subject...
November 2021: Curēus