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Tetrasomy 18p: case report and review of literature

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, fami...

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Autores principales: Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811181/
https://www.ncbi.nlm.nih.gov/pubmed/29467581
http://dx.doi.org/10.2147/TACG.S153469
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author Bawazeer, Shahad
Alshalan, Maha
Alkhaldi, Aziza
AlAtwi, Nasser
AlBalwi, Mohammed
Alswaid, Abdulrahman
Alfadhel, Majid
author_facet Bawazeer, Shahad
Alshalan, Maha
Alkhaldi, Aziza
AlAtwi, Nasser
AlBalwi, Mohammed
Alswaid, Abdulrahman
Alfadhel, Majid
author_sort Bawazeer, Shahad
collection PubMed
description Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis.
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spelling pubmed-58111812018-02-21 Tetrasomy 18p: case report and review of literature Bawazeer, Shahad Alshalan, Maha Alkhaldi, Aziza AlAtwi, Nasser AlBalwi, Mohammed Alswaid, Abdulrahman Alfadhel, Majid Appl Clin Genet Case Report Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis. Dove Medical Press 2018-02-08 /pmc/articles/PMC5811181/ /pubmed/29467581 http://dx.doi.org/10.2147/TACG.S153469 Text en © 2018 Bawazeer et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Bawazeer, Shahad
Alshalan, Maha
Alkhaldi, Aziza
AlAtwi, Nasser
AlBalwi, Mohammed
Alswaid, Abdulrahman
Alfadhel, Majid
Tetrasomy 18p: case report and review of literature
title Tetrasomy 18p: case report and review of literature
title_full Tetrasomy 18p: case report and review of literature
title_fullStr Tetrasomy 18p: case report and review of literature
title_full_unstemmed Tetrasomy 18p: case report and review of literature
title_short Tetrasomy 18p: case report and review of literature
title_sort tetrasomy 18p: case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811181/
https://www.ncbi.nlm.nih.gov/pubmed/29467581
http://dx.doi.org/10.2147/TACG.S153469
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