Sunday, September 20, 2015

How to memorize pediatric genetic condition inheritance patters.

There are a few rules (sorry not mnemonics) to help you remember inheritance patterns

  1. If you do not know guess autosomal recessive as these are the most common.
  2. If it is a "deficiency" think autosomal recessive (unless you memorized it as X-Linked).
    1. Missing one copy of a protein is often not enough to be symptomatic.
  3. If it is really bad (kills before the patient would procreate) it is unlikely to be autosomal dominate unless is is related to a spontaneous mutation.
    1. Eg. Autosomal recessive polycystic kidney disease has a more severe phenotype then autosomal dominate polycystic kidney disease.
  4. There are not that many X-Linked conditions so memorize the popular ones. This should be easy as you always think of these conditions in boys
    1. Muscular dystrophy (Duchenne and Becker)
    2. OTC deficiency 
    3. Hemophilia A and B
    4. Fabry

No comments: