Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

Abstract

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.