Chromosome Analysis (Oncology)
Potential Test Results:
- A normal result indicates no clinically-significant chromosome abnormalities were identified.
- 46, XX (female)
- 46, XY (male)
- An abnormal result indicates that a chromosome abnormality was identified that may provide an explanation for the laboratory results.
- Deletion: Missing pieces of chromosomes and/or genetic material. Some may be small and difficult to detect.
- Duplication: Extra genetic material which may be present on any chromosome.
- Monosomy: The loss of one whole chromosome.
- Rearrangement: With this, genetic material is present on a chromosome but not in its usual location.
- Translocation: With translocations, pieces of chromosomes break off and reattach to another chromosome. If it is a one-to-one switch and all of the genetic material is present (but in the wrong place), it is said to be a reciprocal translocation. If it is not, then it is called an unbalanced translocation.
- Trisomy: The presence of an extra chromosome; a third instead of a pair.
- Loss of Y1: A phenomenon seen in males as they age which may represent a neoplastic state if >75%.
- Clinical Significance of Y Chromosome Loss in Hematologic Disease; Genes, Chromosomes & Cancer. 27:11-16 (2000).