- If you do not know guess autosomal recessive as these are the most common.
- If it is a "deficiency" think autosomal recessive (unless you memorized it as X-Linked).
- Missing one copy of a protein is often not enough to be symptomatic.
- 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.
- Eg. Autosomal recessive polycystic kidney disease has a more severe phenotype then autosomal dominate polycystic kidney disease.
- 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
- Muscular dystrophy (Duchenne and Becker)
- OTC deficiency
- Hemophilia A and B
- Fabry
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
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