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A Six-Year-Old Child With Mosaic Trisomy 13

Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, a...

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Autores principales: Albar, Rawia F, Alghamdi, Mohammed S, Almasrahi, Ahmed M, Aldawsari, Mohammed K, Aljahdali, Faisal F, Alhwaity, Abdulrhman S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8552511/
https://www.ncbi.nlm.nih.gov/pubmed/34722094
http://dx.doi.org/10.7759/cureus.18346
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author Albar, Rawia F
Alghamdi, Mohammed S
Almasrahi, Ahmed M
Aldawsari, Mohammed K
Aljahdali, Faisal F
Alhwaity, Abdulrhman S
author_facet Albar, Rawia F
Alghamdi, Mohammed S
Almasrahi, Ahmed M
Aldawsari, Mohammed K
Aljahdali, Faisal F
Alhwaity, Abdulrhman S
author_sort Albar, Rawia F
collection PubMed
description Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.
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spelling pubmed-85525112021-10-28 A Six-Year-Old Child With Mosaic Trisomy 13 Albar, Rawia F Alghamdi, Mohammed S Almasrahi, Ahmed M Aldawsari, Mohammed K Aljahdali, Faisal F Alhwaity, Abdulrhman S Cureus Pediatrics Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13. Cureus 2021-09-28 /pmc/articles/PMC8552511/ /pubmed/34722094 http://dx.doi.org/10.7759/cureus.18346 Text en Copyright © 2021, Albar 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 Pediatrics
Albar, Rawia F
Alghamdi, Mohammed S
Almasrahi, Ahmed M
Aldawsari, Mohammed K
Aljahdali, Faisal F
Alhwaity, Abdulrhman S
A Six-Year-Old Child With Mosaic Trisomy 13
title A Six-Year-Old Child With Mosaic Trisomy 13
title_full A Six-Year-Old Child With Mosaic Trisomy 13
title_fullStr A Six-Year-Old Child With Mosaic Trisomy 13
title_full_unstemmed A Six-Year-Old Child With Mosaic Trisomy 13
title_short A Six-Year-Old Child With Mosaic Trisomy 13
title_sort six-year-old child with mosaic trisomy 13
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8552511/
https://www.ncbi.nlm.nih.gov/pubmed/34722094
http://dx.doi.org/10.7759/cureus.18346
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