22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate
Voir/ Ouvrir
Date
2018-04-13Les auteurs
Carpeta, SuleimaPineda, Tatiana
Martínez, María Claudia
Osorio, Gloria
Porras Urtado, Gloria Liliana
Rojas Martinez, Jorge Armando
Zarante, Ignacio
Moreno Niño, Olga María
Auteur(s) d'entreprise
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Type
Artículo de revista
ISSN
1055-6656 / 1545-1569 (Electrónico)
Des pages
116 - 122
Type d'élément
Reporte de caso
Partager cet enregistrement
Citación
Metadata
Afficher la notice complète
Documents PDF
Abstrait
The 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.
Couverture spatiale (villes)
Bogotá (Colombia)Couverture spatiale
ColombiaLien vers la ressource
https://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-liveOrigine
Cleft Palate-Craniofacial Journal; Volumen 56 Número 1 (2019)
Google Analytics Statistics
Collections
- Artículos [485]