Trisonomía 22: Reporte de caso clínico

Abstract

Trisomy 22 is an unusual chromosomal abnormality with an incidence of 1 in every 30,000-50,000 live births. It occurs more frequently in the female gender. It is the third cause of spontaneous abortions in the first trimester of pregnancy. The term mosaicism refers to the fact that only some cells are affected, while the rest have a normal chromosome set. In these specific patients, mortality is lower and the malformations are less serious.

The clinical manifestations of trisomy 22 are different between each patient, since it has a very variable phenotype. However, among the most common characteristics they share are; craniofacial dysmorphism; intrauterine growth retardation, heart and kidney malformations, body asymmetry and abnormalities in the ears. Due to the similarity of these clinical findings, a differential diagnosis must be made with other syndromes.