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Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient
Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported ma...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720037/ https://www.ncbi.nlm.nih.gov/pubmed/34993029 http://dx.doi.org/10.7759/cureus.20053 |
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author | Mehkri, Yusuf Jules, Rebecca Elfasi, Aisha Shuhaiber, Hans |
author_facet | Mehkri, Yusuf Jules, Rebecca Elfasi, Aisha Shuhaiber, Hans |
author_sort | Mehkri, Yusuf |
collection | PubMed |
description | Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature. |
format | Online Article Text |
id | pubmed-8720037 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-87200372022-01-05 Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient Mehkri, Yusuf Jules, Rebecca Elfasi, Aisha Shuhaiber, Hans Cureus Genetics Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature. Cureus 2021-11-30 /pmc/articles/PMC8720037/ /pubmed/34993029 http://dx.doi.org/10.7759/cureus.20053 Text en Copyright © 2021, Mehkri et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Mehkri, Yusuf Jules, Rebecca Elfasi, Aisha Shuhaiber, Hans Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title | Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title_full | Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title_fullStr | Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title_full_unstemmed | Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title_short | Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient |
title_sort | tetrasomy 18p initially misdiagnosed as cerebral palsy in an adult patient |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720037/ https://www.ncbi.nlm.nih.gov/pubmed/34993029 http://dx.doi.org/10.7759/cureus.20053 |
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