Mosaic trisomy 22 in a 4‐year‐old boy with congenital heart disease and general hypotrophy: A case report

Abstract

Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4‐year‐old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree.