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An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis
In January 2012, a review of the cases of chromosome 15q24 microdeletion syndrome was published. However, this study did not include inferential statistics. The aims of the present study were to update the literature search and calculate confidence intervals for the prevalence of each phenotype usin...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768676/ https://www.ncbi.nlm.nih.gov/pubmed/26925314 http://dx.doi.org/10.7717/peerj.1641 |
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author | Palazón-Bru, Antonio Ramírez-Prado, Dolores Cortés, Ernesto Aguilar-Segura, María Soledad Gil-Guillén, Vicente Francisco |
author_facet | Palazón-Bru, Antonio Ramírez-Prado, Dolores Cortés, Ernesto Aguilar-Segura, María Soledad Gil-Guillén, Vicente Francisco |
author_sort | Palazón-Bru, Antonio |
collection | PubMed |
description | In January 2012, a review of the cases of chromosome 15q24 microdeletion syndrome was published. However, this study did not include inferential statistics. The aims of the present study were to update the literature search and calculate confidence intervals for the prevalence of each phenotype using bootstrap methodology. Published case reports of patients with the syndrome that included detailed information about breakpoints and phenotype were sought and 36 were included. Deletions in megabase (Mb) pairs were determined to calculate the size of the interstitial deletion of the phenotypes studied in 2012. To determine confidence intervals for the prevalence of the phenotype and the interstitial loss, we used bootstrap methodology. Using the bootstrap percentiles method, we found wide variability in the prevalence of the different phenotypes (3–100%). The mean interstitial deletion size was 2.72 Mb (95% CI [2.35–3.10 Mb]). In comparison with our work, which expanded the literature search by 45 months, there were differences in the prevalence of 17% of the phenotypes, indicating that more studies are needed to analyze this rare disease. |
format | Online Article Text |
id | pubmed-4768676 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | PeerJ Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-47686762016-02-26 An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis Palazón-Bru, Antonio Ramírez-Prado, Dolores Cortés, Ernesto Aguilar-Segura, María Soledad Gil-Guillén, Vicente Francisco PeerJ Epidemiology In January 2012, a review of the cases of chromosome 15q24 microdeletion syndrome was published. However, this study did not include inferential statistics. The aims of the present study were to update the literature search and calculate confidence intervals for the prevalence of each phenotype using bootstrap methodology. Published case reports of patients with the syndrome that included detailed information about breakpoints and phenotype were sought and 36 were included. Deletions in megabase (Mb) pairs were determined to calculate the size of the interstitial deletion of the phenotypes studied in 2012. To determine confidence intervals for the prevalence of the phenotype and the interstitial loss, we used bootstrap methodology. Using the bootstrap percentiles method, we found wide variability in the prevalence of the different phenotypes (3–100%). The mean interstitial deletion size was 2.72 Mb (95% CI [2.35–3.10 Mb]). In comparison with our work, which expanded the literature search by 45 months, there were differences in the prevalence of 17% of the phenotypes, indicating that more studies are needed to analyze this rare disease. PeerJ Inc. 2016-02-04 /pmc/articles/PMC4768676/ /pubmed/26925314 http://dx.doi.org/10.7717/peerj.1641 Text en © 2016 Palazón-Bru et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. |
spellingShingle | Epidemiology Palazón-Bru, Antonio Ramírez-Prado, Dolores Cortés, Ernesto Aguilar-Segura, María Soledad Gil-Guillén, Vicente Francisco An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title | An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title_full | An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title_fullStr | An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title_full_unstemmed | An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title_short | An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
title_sort | inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis |
topic | Epidemiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768676/ https://www.ncbi.nlm.nih.gov/pubmed/26925314 http://dx.doi.org/10.7717/peerj.1641 |
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