J Pediatr Genet 2020; 09(01): 001-008
DOI: 10.1055/s-0039-1698804
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

1  Programa de Maestría en Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia
2  Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia
,
2  Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia
,
Clara Esteban-Pérez
2  Escuela de Ciencias Biológicas, Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia
,
3  Facultad de Medicina, Grupo de investigación en Genética Humana, Universidad de La Sabana, Chía, Colombia
,
3  Facultad de Medicina, Grupo de investigación en Genética Humana, Universidad de La Sabana, Chía, Colombia
› Author Affiliations
Funding This work was supported by Research projects funded by Vicerrectoría de Investigación y Extensión de la Universidad Pedagógica y Tecnológica de Colombia, Tunja-Colombia (SGI 2320, SGI 2425); C.-N.D. is supported by a Young Researcher Scholarship from Universidad Pedagógica y Tecnológica de Colombia, Tunja-Colombia (UPTC).
Further Information

Publication History

05 July 2019

09 September 2019

Publication Date:
23 October 2019 (online)

Abstract

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.

Authors' Contributions

D.C.-N. and M.F.-C. designed, wrote, and edited the manuscript. All authors participated in discussions and critically reviewed the manuscript. M.F.-C. corrected and approved the final version of the manuscript.


Note

This article does not contain any studies with human participants or animals performed by any of the authors.


Supplementary Material