What is the cytogenetic test supposed to identify?
When the Doctor sends away for a chromosome (or cytogenetic) test, they are checking to see if there are any significant chromosomal changes by looking at the chromosomes under a microscope. The test is usually performed in women with POF under the age of 30, but may have value for all women with POF. Changes usually involve the X chromosome. There are several possible changes to the X chromosome, sometimes it is missing completely (Turners syndrome), sometimes parts are missing (deletions), and sometimes parts are swapped with other chromosomes (translocation). Sometimes “mosaic” X chromosomes are identified, where different cells in the body have different numbers of X-chromosomes. The identification of a chromosome abnormality within an individual may influence other family members who have the same defect.
