Random Stuff

Question 1

What tets to order when suspicious of Turner Syndrome?

Answer 1

• You can start with CMA or Karyotype and then complete the other test if needed
• Both of these tests will detect Monosomy X
• Also mosaic state can be diagnosed by both depending on the level of the mosaic state

Question 2

For which aneuploidy would it be appropriate to order karyotype?

Answer 2

The aneuploidy where I would do karyotype as first tier is down syndrome mainly to distinguish between T21 and Robertsonian translocation