Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation

摘要

Prenatal diagnosis of a de novo unbalanced reciprocal translocation involving chromosomal segments with subtle difference in banding requires molecular cytogenetic technologies, such as spectral karyotyping (SKY), fluorescence in situ hybridization, and array-based comparative genomic hybridization, to characterize the nature of the aberrant chromosome [1]. Here, we report prenatal diagnosis and molecular cytogenetic characterization of de novo mosaic trisomy 13q (13q31.3->-qter) in the second trimester.