American Society for Clinical Pathology (ASCP) Technologist in Cytogenetics certification (ASCP CG) Practice Test

What does the presence of a translocation in one cell out of 30 metaphases in amniotic fluid culture signify?

1. Genetic abnormality

2. Cultural artifact

3. Possible chromosomal disorder

4. Cell line disturbance

The correct answer is: Cultural artifact

The presence of a translocation in one cell out of 30 metaphases in amniotic fluid culture can be indicative of a possible chromosomal disorder, rather than simply being a cultural artifact. When only one out of a significant number of cells shows a translocation, it raises questions about whether this finding is a true representation of the genetic status of the fetus or if it might be an anomaly that does not affect overall fetal development. In cytogenetics, a translocation is a structural rearrangement of chromosomal material and can be benign or associated with genetic disorders. If such a translocation is only observed in a minority of cells, it suggests that it may not be a widespread phenomenon in the entire cell population, potentially indicating a mosaic pattern. This finding warrants further investigation, such as analyzing more cells or employing additional techniques to determine if the translocation is present in other cells and if it is clinically significant. Therefore, while the possibility of a cultural artifact can exist, the appropriate interpretation is more aligned with considering this as a potential chromosomal disorder that may require further evaluation.