Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases

Abstract

Introduction: Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22.

Case presentation: We examine and describe a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations and discuss their interrelationships along with case management and outcomes. We aimed to identify aspects of prenatal data suggestive of fetal trisomy 22 and to determine whether a prognosis can be established from these factors.

Conclusion: Our conclusion is that prenatal data elements can provide key elements of information to guide multidisciplinary care and support for the couple and the neonate.

Keywords: Amniocentesis; CGH array; Homogeneous trisomy 22; Mosaic trisomy 22; Trisomy 22.