need help with your account or subscription? click here to email us (or see the contact page)
join telegramNEW! discord
jump to exam page:
search for anything ⋅ score predictor (โ€œpredict me!โ€)

NBME 17 Answers

nbme17/Block 0/Question#0 (reveal difficulty score)
A 20-year-old woman has multiple ...
Autosomal dominant ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags:

 Login (or register) to see more


 +1  upvote downvote
submitted by โˆ—cassdawg(1780)
get full access to all contentpick a username

This is Neurofibromatosis Type I, which is an autosomal dominant disease (FA2020 p60, 525)

Even if you did not know this fact, you could likely guess autosomal dominant based on the inheritance pattern and general disease described. It is VERY COMMON in the family on one side (the mothers) and it did not skip a generation. Autosomal recessive skips generations. Mitochondrial with variable penetrance could be possible, but the disease pattern for mitochondrial are myopathies, metabolic, or optic neuropathy. X-linked would have ALL of the sons of the mother affected (whether it was dominant or recessive).

get full access to all contentpick a username
abkapoor  X-linked dominant may not have all of the sons of the mother affected if she gives her other x chromosome (unaffected chromosome). It is technically possible for this disease to follow x-linked dominant inheritance. The question just requires you to assume this is NF1 +4
jdc_md  if it was X-dominant not all of the sons would have it because the mom could/would most likely be Xx genotype. If the inheritance was x-recessive and the mother possessed the phenotype then all of the sons would be affected +
abkapoor  Its theoretically possible for it to be X-linked dominant. Its just unlikely. +



Must-See Comments from nbme17

cassdawg on Membrane lipid peroxidation
cassdawg on Haemophilus influenzae type b
cassdawg on Pelvic Splanchnic
cassdawg on Actinic keratosis
cassdawg on Early septic shock
cassdawg on Epinephrine
flapjacks on Placebo effect
cassdawg on 0.9% Saline
waitingonprometric on Tubular adenoma
bingcentipede on Surface kappa:surface lambda ratio
cassdawg on Free T4
tinyhorse on 25%
cassdawg on Absence of functional LDL receptors in ...
bingcentipede on Residual volume: โ†‘; Arterial PO2: โ†“; ...

search for anything NEW!