Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.

ABSTRACT:

Background

22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid hypoplasia, developmental delay, learning disabilities, psychiatric disorders, renal, ocular, and skeletal malformations, hearing loss and laryngeal abnormalities. Chromosomal microarray (CMA) hybridization is one of the most performed diagnostic tests but as a genome wide analysis, it can point out relevant incidental copy number variations.

Case presentation

We report the case of a 2-year-old boy that came to our attention for mild psychomotor delay, poor growth, and minor facial anomalies. Considering a

SUBMITTER: Rosina E 

PROVIDER: S-EPMC7885235 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature