Memorizing Chromosomal Disorders

[kissmyasthma99]

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I'm currently using DIT, and he says that Step 1 never asks questions about specific chromosome numbers for certain disorders (ex: Angelman's and Prader-Willi - Chr 15, NFT1 - 17q, NFT2 - 22q, etc.) Had to look those up by the way 🙂. Anyway, he says not to memorize these out of FA. I was just wondering if any of you who have already had you test had any questions on these. Thanks.

 

[turkeyjerky]

oh god I hope so, that would definitely confirm my high opinion of the boards people

 

[AggieSean]

I've definitely had some practice questions on them, and I'm pretty sure some were on the NBMEs (everything runs together at this point). I mean, you might not HAVE to know them, but it could help you get the dx right. I would think the basic ones are important, like 6 for hemochromatosis or 4 for Huntington's, given the board's proclivity for testing those things.
Oh, and knowing the chromosomes for the tumor suppressor genes is definitely worth knowing. I've had lots of questions on those too.

 

[illixir]

Aside from deletions(catch-22, cri du chat) and x chromosome can't remember ever once having needed to know that. They're often mentioned in the question, and it can be an ancillary piece but probably not the only give-away.

 

[Domenech]

Don't be fooled into thinking these won't be tested. Uworld has loads of questions that just test one fact: Which chromosome is it? Of course it loves taking it deeper into multiple step thinking processes. For example needing to know the EXACT inheritance mode of a genetic disease to evaluate the disease risk in a pedigree. They might hit you unguarded with Vitamin D resistant rickets and ask you to evaluate the risks.

Some very commonly tested chromosome are those of Achondroplasia, Huntington, FAP, Neurofibromatosis 1 and 2, DCC, DPC, Retinoblastoma. So you gotta know all their chromosome numbers.

 

[kissmyasthma99]

I definitely agree that knowing the tumor suppressor genes, how they work, and what diseases they predispose to is important. Dr. Jenkins emphasizes this. However, he has said that he hasn't heard of a specific question just testing the chromosome number. He went so far as to tell you to mark them out in first aid. For instance, BRCA1 - 17q, BRCA - 13q, p16 - 9p. However, he did emphasize each gene and their associated tumor(s). He also did cover the major ones: Edwards, Huntington's, Down's, Catch-22, etc. I would like to keep from memorizing all but the big ones if possible. However, if they are on there - I'll learn 'em 🙂. So any further insight into this would be awesome.

 

[illixir]

I was just saying that I personally never needed to know a chromosome number aside from deletions/trisomies/x and I did 100% uworld, every nbme/uwsa and the real thing. The presentation is most often where the answer is.

 

[DrTacoElf]

Don't be fooled into thinking these won't be tested. Uworld has loads of questions that just test one fact: Which chromosome is it? Of course it loves taking it deeper into multiple step thinking processes. For example needing to know the EXACT inheritance mode of a genetic disease to evaluate the disease risk in a pedigree. They might hit you unguarded with Vitamin D resistant rickets and ask you to evaluate the risks.

Some very commonly tested chromosome are those of Achondroplasia, Huntington, FAP, Neurofibromatosis 1 and 2, DCC, DPC, Retinoblastoma. So you gotta know all their chromosome numbers.

What is DCC and DPC?😱

 

[Ableton]

Aside from deletions(catch-22, cri du chat) and x chromosome can't remember ever once having needed to know that. They're often mentioned in the question, and it can be an ancillary piece but probably not the only give-away.

On my path shelf there was a question on Prader-Willi syndrome. They only gave the presentation and the answer choices had you pick between chromosome numbers (mutation on maternal/paternal chromosome 14/15/16.. not exact same numbers, but you get the idea). I managed to guess right, but I wasn't too thrilled about it at the time.

My advice is to err on the side of safety and just know the numbers, if only for the major diseases.

 

[Domenech]

What is DCC and DPC?😱

DCC = Deleted in Colorectal Carcinoma. Part of the Colon CA evolution in Familial Adenomatous Polyposis. First mutation is of APC gene, second is of RAS gene, and third is a collective mutation of DCC and TP-53. This sequence is written in Kaplan and I think uworld also has a few questions testing it (that's why I have it in my notes).

DPC = Deleted in Pancreatic Adenocarcinoma plus Stomach CA.

Both are associated with Chromosome 18.

 

[singinfifi]

In watching the kaplan videos I swear that the guy said 5 or 6 times "and they love chromosome numbers"

then again, maybe i just hit a "TWO WEEKS TILL BOARDS" state of hallucination....

 

[turkeyjerky]

In watching the kaplan videos I swear that the guy said 5 or 6 times "and they love chromosome numbers"

then again, maybe i just hit a "TWO WEEKS TILL BOARDS" state of hallucination....

i hear that a lot too, but the only place I ever see those chromosome numbers is is first aid. No where else, incl. questions, have I seen chromosome locations **** like the Rb gene or CF. Obviously this doesn't go for disorders where the chromosomal abnormality defines the disease, like 22q deletions or Prader-Willi; translocations in cancers also seem to be fair game (although the actual genes involved might be more impt).

But, honestly, who gives a f^ck that the gene for huntington's disease is on chromosome 4?

 

[kissmyasthma99]

I was just saying that I personally never needed to know a chromosome number aside from deletions/trisomies/x and I did 100% uworld, every nbme/uwsa and the real thing. The presentation is most often where the answer is.

Awesome, I'm gonna go with this 🙂

 

[badasshairday]

But, honestly, who gives a f^ck that the gene for huntington's disease is on chromosome 4?

Amen to that. I swear some of the stuff they test us on is so freakin stupid. Knowing which vius is negative sense RNA and icosahedral, wtf? I bet if I asked 90% of practicing physicians out there, they'd be like wtf? Isn't knowing what virus it is enough? I hate them.

Oh yeah, and don't forget to know whether it is on the p or q arm of the chromosome. Freaking *******s.

 

[username456789]

Amen to that. I swear some of the stuff they test us on is so freakin stupid. Knowing which vius is negative sense RNA and icosahedral, wtf? I bet if I asked 90% of practicing physicians out there, they'd be like wtf? Isn't knowing what virus it is enough? I hate them.

Oh yeah, and don't forget to know whether it is on the p or q arm of the chromosome. Freaking *******s.

"I'm sorry Mr. Smith, but we got yor test results back, and I'm afraid you've got a virus that brings it's own RNA dependent RNA Polymerase with it."

 

[Domenech]

Well we can complain all we want whether something being tested makes sense or not, but the fact remains that we got to learn it. If we don't, we'd get the questions wrong 😉

 

[Bassix]

I'd imagine CML, Burkett's, and Ewing would be tested somewhere given that it's been beat into my head and imo, were some of the easier chromosomal translocations to remember.

 

[kissmyasthma99]

Dr. Jenkins also said that memorizing all that stuff for the viruses was extremely low-yield as well (i.e. icosahedral, negative sense). He said it was so low yield that he didn't even cover it. I think his exact words were "I've never heard of anyone having a question on this." He did however go into depth about the diseases each cause, and he added a lot to this is the supplementary handout. I think the symptoms and clinical findings are much higher yield. I don't think you'll have a question testing the sole fact of whether a virus is iscosahedral or not (while it may help you answer it). But definitely know your Hepatitis serologic markers!

 

[Domenech]

Dr. Jenkins also said that memorizing all that stuff for the viruses was extremely low-yield as well (i.e. icosahedral, negative sense). He said it was so low yield that he didn't even cover it. I think his exact words were "I've never heard of anyone having a question on this." He did however go into depth about the diseases each cause, and he added a lot to this is the supplementary handout. I think the symptoms and clinical findings are much higher yield. I don't think you'll have a question testing the sole fact of whether a virus is iscosahedral or not (while it may help you answer it). But definitely know your Hepatitis serologic markers!

You won't get blunt questions like: is this virus enveloped? But they'd perfectly disguise it such that you NEED to know it!

I suggest doing uworld in more detail. They definitely DO ask questions relating to virus structures.

 

[username456789]

You won't get blunt questions like: is this virus enveloped? But they'd perfectly disguise it such that you NEED to know it!

I suggest doing uworld in more detail. They definitely DO ask questions relating to virus structures.

I'm not too far into UW, but Kaplan has a bunch where they give you the clinical presentation, and the answer choices are just virus structure descriptions.

 

[illixir]

I'd imagine CML, Burkett's, and Ewing would be tested somewhere given that it's been beat into my head and imo, were some of the easier chromosomal translocations to remember.

Yea that's another one of the exceptions, I would know all the translocation numbers, didn't have one of them on the test myself(only in practice) but I'm sure others have.

 

[kissmyasthma99]

You won't get blunt questions like: is this virus enveloped? But they'd perfectly disguise it such that you NEED to know it!

I suggest doing uworld in more detail. They definitely DO ask questions relating to virus structures.

Well, I'm not far into UWorld yet. My plan is learn what DIT says, then as I go through UWorld if there's something in there that I haven't learned or he says isn't important, I will learn it then and commit it to memory. 🙂

 

[Domenech]

Well, I'm not far into UWorld yet. My plan is learn what DIT says, then as I go through UWorld if there's something in there that I haven't learned or he says isn't important, I will learn it then and commit it to memory. 🙂

Yep that's how I learned too 🙂

 

[2001bmw330xi]

Well, I'm not far into UWorld yet. My plan is learn what DIT says, then as I go through UWorld if there's something in there that I haven't learned or he says isn't important, I will learn it then and commit it to memory. 🙂

I'm not too familiar with the DIT course, but I think you'll find that uWorld will challenge to you know many of these facts that he's saying not to.

But... that's also the whole point of uWorld - to provide you with challenging and stimulating questions, some of which may, in theory, be harder than or beyond the scope of questions you find on the actual exam yet make you think along those very same lines.

 

[HopefulDoc1984]

"everything has some meaning to it..... there arent any tricks....dont ask, do i need to know this, the answer is yes....."

"in terms of whats important, everythings important......the more you know, the higher your score-straight log"

-goljan