False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up.

Background: Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy detection provides rapid results desirable for patient management, it usually only utilizes one probe per chromosome, which may lead to rare false-positive findings.

Case Presentation: Here we report two interphase FISH results, which were false-positive for XXY in cytogenetically normal XX individuals.

Examining career shadowing in genetic counseling: Perspectives of shadowees, program directors, and genetic counselors.

Career shadowing can be a valuable opportunity for individuals to experience the daily activities of a working professional. However, there is no published research regarding the impact of shadowing for individuals hoping to pursue a career as a genetic counselor (GC) (termed 'shadowees'). Additionally, little is known about the impact of shadowing on practicing GCs, nor the value of shadowing in the application and admission process for genetic counseling graduate programs.

Prenatal characterization of a novel inverted duplication by mate pair sequencing in a fetus with dextrocardia.

This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.