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...
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PeerJ Inc.
2016-02-01
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| Online Access: | https://peerj.com/articles/1641.pdf |
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| author | Antonio Palazón-Bru Dolores Ramírez-Prado Ernesto Cortés María Soledad Aguilar-Segura Vicente Francisco Gil-Guillén |
| author_facet | Antonio Palazón-Bru Dolores Ramírez-Prado Ernesto Cortés María Soledad Aguilar-Segura Vicente Francisco Gil-Guillén |
| author_sort | Antonio Palazón-Bru |
| collection | DOAJ |
| 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. |
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| language | English |
| last_indexed | 2024-03-09T06:35:30Z |
| publishDate | 2016-02-01 |
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| spelling | doaj.art-ba5862c10f4c48d7947ec97ece64a2952023-12-03T10:58:45ZengPeerJ Inc.PeerJ2167-83592016-02-014e164110.7717/peerj.1641An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysisAntonio Palazón-Bru0Dolores Ramírez-Prado1Ernesto Cortés2María Soledad Aguilar-Segura3Vicente Francisco Gil-Guillén4Department of Clinical Medicine, Miguel Hernández University, San Juan de Alicante, Alicante, SpainClinical Analysis Department, Elda Hospital, Elda, Alicante, SpainPharmacology, Pediatrics and Organic Chemistry Department, Miguel Hernández University, San Juan de Alicante, Alicante, SpainPharmacology, Pediatrics and Organic Chemistry Department, Miguel Hernández University, San Juan de Alicante, Alicante, SpainDepartment of Clinical Medicine, Miguel Hernández University, San Juan de Alicante, Alicante, SpainIn 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.https://peerj.com/articles/1641.pdfPhenotypeGenetic association studiesGenotype15q24 microdeletion |
| spellingShingle | Antonio Palazón-Bru Dolores Ramírez-Prado Ernesto Cortés María Soledad Aguilar-Segura Vicente Francisco Gil-Guillén An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis PeerJ Phenotype Genetic association studies Genotype 15q24 microdeletion |
| 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 | Phenotype Genetic association studies Genotype 15q24 microdeletion |
| url | https://peerj.com/articles/1641.pdf |
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