Genetic Diseases and Conditions

1 - 10 of 167 Answers

March 6, 2019: In X-linked recessive diseases, why are females who inherit only 1 disease-causing allele carriers, since 1 of the 2 chromosomes is inactivated? What if the chromosome with the normal allele is the one that is inactivated, and the other disease-causing allele is the active one? Why isn’t X-inactivation taken into consideration? Why are females always carriers, and not affected by chance depending on which X chromosome is inactivated?
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February 12, 2019: My mother's twin sister had ALS, my mother didn't. Their mother's sister may also have had ALS. Should I be concerned that I may have inherited the possibility of getting the disease?
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February 8, 2019: Two of my baby brothers have Duchenne muscular dystrophy, my mother is a carrier. My question is if I am a carrier would I get symptoms as I age? And what are the chances of me being a carrier?
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May 7, 2018: What are the chances that a child will end up with fragile x if mom is a fragile x carrier with 63 cgg repeat and 1 agg interruption?
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March 23, 2018: None of my family is colorblind in the last 3 generations, except me (I am male). I believe that it’s a genetic mutation that just happened to make me colorblind. Is this the most likely explanation?
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December 5, 2017: I'm doing research for a book and I have a question regarding sex and gender. One of the biggest issues facing the LGBTQ today is transgender discrimination. Many people of course are arguing there are only just two genders (i.e. sexes) male and female. But in doing research, there seem to be more combinations at least at the DNA level. Instead of just XX and XY, there can be XXX, XXY, and X and many others besides.  Does this have to do with being transgender? From a genetic perspective, are there more sexes than male and female, or is everything else just classified as a disorder? 
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November 1, 2017: Women with Turner syndrome have just one X chromosome but women usually only have one working X because of X-inactivation. Why do women with one X chromosome have any symptoms? 
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October 18, 2017: Dad is color blind, mom isn’t. They have 2 daughters and both are not color blind. When the girls marry someone who isn’t color blind, will their kids be color blind?
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September 19, 2017: How does cancer immunotherapy work?
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September 11, 2017: If someone’s sister is a carrier for Duchenne muscular dystrophy, what are that person’s chances for being a carrier too? No one in the family has muscular dystrophy.
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