Cureus. 2021 Nov 17;13(11):e19661. doi: 10.7759/cureus.19661. eCollection 2021 Nov.

19p13.3 Deletion With Polyotia: A Case Report and Literature Review.

Cureus

Carlos Silvera Redondo, Camilo Andrés Avendaño Capriles, David Fernández Sánchez, Ricardo David Espinosa, Ana Sofía Acostamadiedo Marx

PMID: 34976455 PMCID: PMC8680017 DOI: 10.7759/cureus.19661

Abstract

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. Additionally, to our knowledge, this is the first and only case with polyotia in its phenotype to be reported in Colombia to date.

Copyright © 2021, Silvera Redondo et al.

Keywords: chromosome aberrations; chromosome deletion; congenital abnormalities; learning disabilities; microarray analysis

Conflict of interest statement

Publication Types

• Case Reports