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

J Pediatr Genet. 2020 Mar;9(1):1-8. doi: 10.1055/s-0039-1698804. Epub 2019 Oct 23.

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.

Keywords: 22q11.2DS; cleft lip and/or palate; congenital heart disease; systematic review.

Publication types

  • Review

Grants and funding

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).