Mostrar el registro sencillo del ítem

22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorRojas Martinez, Jorge Armando
dc.contributorZarante, Ignacio
dc.contributorMoreno Niño, Olga María
dc.creatorCarpeta, Suleima
dc.creatorPineda, Tatiana
dc.creatorMartínez, María Claudia
dc.creatorOsorio, Gloria
dc.creatorPorras Urtado, Gloria Liliana
dc.creatorRojas Martinez, Jorge Armando
dc.creatorZarante, Ignacio
dc.creatorMoreno Niño, Olga María
dc.date2020-03-10T13:52:44Z
dc.date2020-04-15T13:32:03Z
dc.date2020-03-10T13:52:44Z
dc.date2020-04-15T13:32:03Z
dc.date2018-04-13
dc.date.accessioned2025-10-30T13:53:04Z
dc.date.available2025-10-30T13:53:04Z
dc.identifierhttps://login.ezproxy.javeriana.edu.co/login?url=https://search-ebscohost-com.ezproxy.javeriana.edu.co/login.aspx?direct=true&db=edselc&AN=edselc.2-52.0-85058604865&lang=es&site=eds-live
dc.identifier1055-6656 / 1545-1569 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47555
dc.identifierhttps://doi.org/10.1177/1055665618770307
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/189878
dc.descriptionQ3
dc.descriptionQ1
dc.descriptionReporte de caso
dc.description116 - 122
dc.descriptionPacientes con labio hendido y/o paladar hendido sindrómico
dc.descriptionThe objective of this work was to identify 22q11.2 chromosomal deletion in patients with cleft lip and/or cleft palate and suggestive syndromic phenotype in Colombian patients. We studied 49 patients with cleft lip and/or cleft palate, exhibiting additional clinical findings linked to 22q11.2 deletion syndrome. All patients underwent high-resolution G-banded karyotyping, multiplex ligation-dependent probe amplification, and clinical evaluation by a geneticist. Seven patients presented 22q11.2 deletion and 2 patients had other chromosomal abnormalities. In conclusion, this study contributes with new data for genetic etiology in syndromic conditions of oral fissures.
dc.descriptionhttps://orcid.org/0000-0003-0882-2917
dc.descriptionhttps://orcid.org/0000-0002-9784-188X
dc.descriptionhttps://orcid.org/0000-0002-0729-6866
dc.descriptionhttps://orcid.org/0000-0002-0826-6191
dc.descriptionRevista Internacional - Indexada
dc.descriptionA2
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languageeng
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceCleft Palate-Craniofacial Journal; Volumen 56 Número 1 (2019)
dc.subjectChromosomes
dc.subjectCraniofacial morphology
dc.subjectVelocardiofacial syndrome
dc.subjectGenetics
dc.title22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista
dc.coverageColombia
dc.coverageBogotá (Colombia)


Ficheros en el ítem

FicherosTamañoFormatoVer

No hay ficheros asociados a este ítem.

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem