22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate
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Date
2018-04-13Authors
Carpeta, SuleimaPineda, Tatiana
Martínez, María Claudia
Osorio, Gloria
Porras Urtado, Gloria Liliana
Rojas Martinez, Jorge Armando
Zarante, Ignacio
Moreno Niño, Olga María
Corporate Author(s)
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)
Pages
116 - 122
Item type
Reporte de caso
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Abstract
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.
Spatial coverage (cities)
Bogotá (Colombia)Spatial coverage
ColombiaLink to the resource
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-liveSource
Cleft Palate-Craniofacial Journal; Volumen 56 Número 1 (2019)
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