Display options
Cite
Silvera Redondo C, Avendaño Capriles CA, Fernández Sánchez D, et al. 19p13.3 Deletion With Polyotia: A Case Report and Literature Review. Cureus. 2021;13(11):e19661doi: 10.7759/cureus.19661.
Silvera Redondo, C., Avendaño Capriles, C. A., Fernández Sánchez, D., David Espinosa, R., & Acostamadiedo Marx, A. S. (2021). 19p13.3 Deletion With Polyotia: A Case Report and Literature Review. Cureus, 13(11), e19661. https://doi.org/10.7759/cureus.19661
Silvera Redondo, Carlos, et al. "19p13.3 Deletion With Polyotia: A Case Report and Literature Review." Cureus vol. 13,11 (2021): e19661. doi: https://doi.org/10.7759/cureus.19661
Silvera Redondo C, Avendaño Capriles CA, Fernández Sánchez D, David Espinosa R, Acostamadiedo Marx AS. 19p13.3 Deletion With Polyotia: A Case Report and Literature Review. Cureus. 2021 Nov 17;13(11):e19661. doi: 10.7759/cureus.19661. eCollection 2021 Nov. PMID: 34976455; PMCID: PMC8680017.
Copy Download .nbib Format: NLM
Share it on

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

Affiliations

  1. Department of Genetics, Hospital Universidad del Norte, Barranquilla, COL.
  2. Foundations of Clinical Research (FCR) Program, Harvard Medical School, Boston, USA.
  3. Medicine, Universidad del Norte, Barranquilla, COL.

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

The authors have declared that no competing interests exist.

References

  1. Am J Hum Genet. 2009 Apr;84(4):524-33 - PubMed
  2. Allergol Immunopathol (Madr). 2016 May-Jun;44(3):257-62 - PubMed
  3. Am J Med Genet A. 2013 May;161A(5):1110-6 - PubMed
  4. Int J Cancer. 2012 Sep 1;131(5):E830-5 - PubMed
  5. Am J Med Genet A. 2011 May;155A(5):1192-5 - PubMed
  6. Am J Med Genet A. 2012 Nov;158A(11):2959-62 - PubMed
  7. Eur J Hum Genet. 2015 Dec;23(12):1615-26 - PubMed
  8. Genes Chromosomes Cancer. 2004 Nov;41(3):250-6 - PubMed
  9. Am J Med Genet A. 2005 Jul 1;136(1):38-44 - PubMed
  10. Clin Auton Res. 2014 Feb;24(1):25-30 - PubMed
  11. Am J Med Genet A. 2015 Feb;167A(2):389-93 - PubMed
  12. Am J Med Genet A. 2010 Dec;152A(12):3148-53 - PubMed
  13. Cytogenet Genome Res. 2011;132(1-2):8-15 - PubMed
  14. Genet Mol Biol. 2011 Oct;34(4):557-61 - PubMed
  15. Am J Med Genet A. 2013 Dec;161A(12):2953-63 - PubMed

Publication Types