CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease
Q3
- Autores:
-
Pineda, Tatiana
Zarante, Ignacio
Paredes Brijaldo, Angela Camila
Rozo, Juan Pablo
Reyes, Martha C.
Moreno Niño, Olga María
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/54187
- Acceso en línea:
- https://journals.sagepub.com/doi/full/10.1177/11795468211016870?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org
http://hdl.handle.net/10554/54187
https://doi.org/10.1177/11795468211016870
- Palabra clave:
- Congenital cardiopathy
22q11.2 deletion syndrome
Multiplex ligation-dependent probe amplification (MLPA)
Copy number variation (CNV)
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
| id |
JAVERIANA2_49e788bceea4cd02aa5922ccb348e2a4 |
|---|---|
| oai_identifier_str |
oai:repository.javeriana.edu.co:10554/54187 |
| network_acronym_str |
JAVERIANA2 |
| network_name_str |
Repositorio Universidad Javeriana |
| repository_id_str |
|
| dc.title.spa.fl_str_mv |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| title |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| spellingShingle |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease Congenital cardiopathy 22q11.2 deletion syndrome Multiplex ligation-dependent probe amplification (MLPA) Copy number variation (CNV) |
| title_short |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| title_full |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| title_fullStr |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| title_full_unstemmed |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| title_sort |
CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease |
| dc.creator.fl_str_mv |
Pineda, Tatiana Zarante, Ignacio Paredes Brijaldo, Angela Camila Rozo, Juan Pablo Reyes, Martha C. Moreno Niño, Olga María |
| dc.contributor.author.none.fl_str_mv |
Pineda, Tatiana Zarante, Ignacio Paredes Brijaldo, Angela Camila Rozo, Juan Pablo Reyes, Martha C. Moreno Niño, Olga María |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Zarante, Ignacio Moreno Niño, Olga María |
| dc.subject.keyword.spa.fl_str_mv |
Congenital cardiopathy 22q11.2 deletion syndrome Multiplex ligation-dependent probe amplification (MLPA) Copy number variation (CNV) |
| topic |
Congenital cardiopathy 22q11.2 deletion syndrome Multiplex ligation-dependent probe amplification (MLPA) Copy number variation (CNV) |
| description |
Q3 |
| publishDate |
2021 |
| dc.date.accessioned.none.fl_str_mv |
2021-06-22T01:14:53Z |
| dc.date.available.none.fl_str_mv |
2021-06-22T01:14:53Z |
| dc.date.created.none.fl_str_mv |
2021-05-24 |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
| dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| format |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.identifier.spa.fl_str_mv |
https://journals.sagepub.com/doi/full/10.1177/11795468211016870?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org |
| dc.identifier.issn.spa.fl_str_mv |
1179-5468 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/54187 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1177/11795468211016870 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
| dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
| dc.identifier.repourl.spa.fl_str_mv |
repourl:https://repository.javeriana.edu.co |
| url |
https://journals.sagepub.com/doi/full/10.1177/11795468211016870?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org http://hdl.handle.net/10554/54187 https://doi.org/10.1177/11795468211016870 |
| identifier_str_mv |
1179-5468 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
1 |
| dc.relation.citationendpage.spa.fl_str_mv |
6 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Clinical Medicine Insights: Cardiology |
| dc.relation.citationvolume.spa.fl_str_mv |
15 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
| dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc/4.0/ |
| dc.rights.coar.spa.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
| rights_invalid_str_mv |
Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
| dc.format.spa.fl_str_mv |
PDF |
| dc.format.mimetype.spa.fl_str_mv |
application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.temporal.none.fl_str_mv |
2012-2013 |
| dc.coverage.city.spa.fl_str_mv |
Bogotá (Colombia) |
| institution |
Pontificia Universidad Javeriana |
| bitstream.url.fl_str_mv |
http://repository.javeriana.edu.co/bitstream/10554/54187/1/CNVs%20in%20the%2022q11%20Chromosomal%20region%20shouldbe%20an%20early%20suspect%20in%20infants%20with%20CDH.pdf http://repository.javeriana.edu.co/bitstream/10554/54187/2/license.txt http://repository.javeriana.edu.co/bitstream/10554/54187/3/CNVs%20in%20the%2022q11%20Chromosomal%20region%20shouldbe%20an%20early%20suspect%20in%20infants%20with%20CDH.pdf.jpg |
| bitstream.checksum.fl_str_mv |
7687378fb96d957de6d71d218e83567e 2070d280cc89439d983d9eee1b17df53 5679b8c6cacd4bad508878b8eb7a990f |
| bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
| repository.name.fl_str_mv |
Repositorio Institucional - Pontificia Universidad Javeriana |
| repository.mail.fl_str_mv |
repositorio@javeriana.edu.co |
| _version_ |
1811670698111795200 |
| spelling |
Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Pineda, TatianaZarante, IgnacioParedes Brijaldo, Angela CamilaRozo, Juan PabloReyes, Martha C.Moreno Niño, Olga MaríaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaZarante, IgnacioMoreno Niño, Olga MaríaColombia2012-2013Bogotá (Colombia)2021-06-22T01:14:53Z2021-06-22T01:14:53Z2021-05-24https://journals.sagepub.com/doi/full/10.1177/11795468211016870?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org1179-5468http://hdl.handle.net/10554/54187https://doi.org/10.1177/11795468211016870instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengCNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac diseaseArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q3Q2Infantes con Cardiopatía congénitaBackground: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort. Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%). Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.https://orcid.org/0000-0003-0882-2917https://orcid.org/0000-0002-0729-6866https://orcid.org/0000-0001-5439-5560https://orcid.org/0000-0002-0826-6191Revista Internacional - IndexadaA2Congenital cardiopathy22q11.2 deletion syndromeMultiplex ligation-dependent probe amplification (MLPA)Copy number variation (CNV)16Clinical Medicine Insights: Cardiology15ORIGINALCNVs in the 22q11 Chromosomal region shouldbe an early suspect in infants with CDH.pdfCNVs in the 22q11 Chromosomal region shouldbe an early suspect in infants with CDH.pdfArtículoapplication/pdf740333http://repository.javeriana.edu.co/bitstream/10554/54187/1/CNVs%20in%20the%2022q11%20Chromosomal%20region%20shouldbe%20an%20early%20suspect%20in%20infants%20with%20CDH.pdf7687378fb96d957de6d71d218e83567eMD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/54187/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILCNVs in the 22q11 Chromosomal region shouldbe an early suspect in infants with CDH.pdf.jpgCNVs in the 22q11 Chromosomal region shouldbe an early suspect in infants with CDH.pdf.jpgIM Thumbnailimage/jpeg10306http://repository.javeriana.edu.co/bitstream/10554/54187/3/CNVs%20in%20the%2022q11%20Chromosomal%20region%20shouldbe%20an%20early%20suspect%20in%20infants%20with%20CDH.pdf.jpg5679b8c6cacd4bad508878b8eb7a990fMD53open access10554/54187oai:repository.javeriana.edu.co:10554/541872023-03-15 15:36:48.879Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |