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The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.
Cárdenas-Nieto, Diana; Forero-Castro, Maribel; Esteban-Pérez, Clara; Martínez-Lozano, Julio; Briceño-Balcázar, Ignacio.
Afiliação
  • Cárdenas-Nieto D; Programa de Maestría en Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
  • Forero-Castro M; Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
  • Esteban-Pérez C; Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
  • Martínez-Lozano J; Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
  • Briceño-Balcázar I; Facultad de Medicina, Grupo de investigación en Genética Humana, Universidad de La Sabana, Chía, Colombia.
J Pediatr Genet ; 9(1): 1-8, 2020 Mar.
Article em En | MEDLINE | ID: mdl-31976137
The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies / Systematic_reviews Aspecto: Patient_preference Idioma: En Revista: J Pediatr Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies / Systematic_reviews Aspecto: Patient_preference Idioma: En Revista: J Pediatr Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Alemanha