Chromosome Numbers on Step 1?

[Tedebear]

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Have anybody got a question that aske for a specifc chromosome number for Step 1. For example, let's say you were given a clinical vignette that you knew was cystic fibrosis. At the end of the question stem rather than asking you what is it? Do they ask this disease process is associated with chromosome number X?

If so, what diseases should we be familar with for chromosome number. I would appreciate advice from people that have taken Step 1.

 

[bigfrank]

Good question. I think everybody prepares for chromosome questions but few people actually get tested on specific chromosomes. The test ends up being much more "cerebral" than rote memorization.

In short, I would know:

Clinical differentiation among Trisomy 21/18/13
VHL - #3
CF - #7
NF-1 - #17
Wilms Tumor - #11 (WT-1)
Tuberous Sclerosis - #9/16

And know the malignancy translocations
t(9;22) - CML (BCR-ABL)
t(14;18) - Follicular (inhibition of BCL-2)
t(11;22) - Ewing's Sarcoma
t(8;14) - Burkitt's Lumphoma (MYC activation).

The above was from memory, so take it with a grain of salt. But it should give you a good idea of "classic" chromosomal D/Os and translocations they might (but probably won't) ask.

Best,

 

[mjl1717]

That was good info especially the 21/18/13 part and the translocations.

 

[mpp]

If it's in First Aid it's probably a good thing to know...