Chromosomal Microarray Analysis Case Study

This case study details the findings from a Chromosomal Microarray Analysis (CMA) performed on a newborn baby boy diagnosed with tetralogy of Fallot. The CMA identified compound heterozygous deletions on chromosome 22, leading to dual diagnoses: 22q11.21 deletion syndrome and a pathogenic deletion of the TANGO2 gene. The first deletion, a 2.5 Mb region at band 22q11.21, is associated with DiGeorge syndrome, while the second deletion affects exons 3-9 of the C22orf25 gene, which is linked to metabolic encephalomyopathic crises known as MECRCN. The report emphasizes the importance of CMA in detecting multiple copy number variations (CNVs) in a single patient, which can facilitate early diagnosis and management. Additionally, it mentions that patients with MECRCN may benefit from specific vitamin supplementation and outlines clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Parental studies are suggested to ascertain the inheritance of the identified variants.