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Seven months pregnant, an expectant mother was undergoing aroutine ultrasound. While prior tests had been normal, thisone showed that the limbs of the fetus were u...

Question

Seven months pregnant, an expectant mother was undergoing aroutine ultrasound. While prior tests had been normal, thisone showed that the limbs of the fetus were unusually short. The doctor suspected that the baby might have a genetic form ofdwarfism called achondroplasia. He told her that the disorderwas due to an autosomal dominant mutation and occurred with afrequency of about 1 in 25,000 births. The expectant motherhad studied genetics in college and immediately raised severalquestions.

Seven months pregnant, an expectant mother was undergoing a routine ultrasound. While prior tests had been normal, this one showed that the limbs of the fetus were unusually short. The doctor suspected that the baby might have a genetic form of dwarfism called achondroplasia. He told her that the disorder was due to an autosomal dominant mutation and occurred with a frequency of about 1 in 25,000 births. The expectant mother had studied genetics in college and immediately raised several questions. How would you answer them? If this child has achondroplasia, is there an increased chance that their next child would also have this disorder? Why or why not? Could this disorder have been caused by X rays or ultrasounds she had earlier in pregnancy?



Answers

Seven months pregnant, an expectant mother was undergoing a routine ultrasound.
While prior tests had been normal, this one showed that the limbs of the fetus were unusually short.
The doctor suspected that the baby might have a genetic form of dwarfism called achondroplasia.
He told her that the disorder was due to an autosomal dominant mutation and occurred with a frequency of about 1 in 25,000 births.
The expectant mother had studied genetics in college and immediately raised several questions.
How would you answer them?
If this child has achondroplasia, is there an increased chance that their next child would also have this disorder?
Why or why not? Could this disorder have been caused by X rays or ultrasounds she had earlier in pregnancy?

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We're counseling a couple worried about Duchenne type muscular dystrophy. So it's S X linked. The man has a family history. The woman has no family history. We're going to use a capital D for being normal annual. So if a woman has no family history, Okay, she has two X chromosomes. Both are probably the normal value. The man has a family history but the condition that shows itself before the age of 20. So this man clearly does not have it. And he only has one x chromosome, so he must be typed. Dy So do we have to worry? Well, no, he does not carry the real, so all offspring will be no. So no concerns offspring. Now we're looking at the man's sister marrying the man's fiancee's forever. Okay, so she might be a carrier. So the sister might be D d type. She might not, but she might be. She has a family history, and in this case, she will be crossed with a normal, um, a man with no family history. So he would be dy. And in this case, there is a chance of the Children having it, because if we look at this be possible results with the d. D d D D Y and D y so you can see that half of a male Children would have Duchenne muscular dystrophy, so half of male Children would be affected and half of female Children would be Karius.

All right. You have a couple that basically wants to know the chances that their offspring, we're gonna have Duchenne type muscular dystrophy. This is a condition that is X linked, which means it is sex linked is found on the X chromosome of which females always have to unless there's a major genetic disorder. And males always have one X and one y. So because it's excellent. If males have this, um, Lille on their X chromosome, they're going to have it. Even though it is a recess of trait because they don't have another X chromosome to cover it up. They don't have the other Alil the dominant, really All a little on the other chromosome because they only have one that script. So basically the male side, he has a brother who died from the disease. Um, and then the female. She has no history on her side of the family. So if this is a recessive disease, I'm gonna go ahead and assume that she is probably big d Big D homeless like a dominant. She does not even have the trade in her family. There's no history of it. So she probably is not a carrier. The brother cannot be a carrier because if you're a male, if you have the trait, you have the disease. We know that he doesn't have the disease, were assumed that he is over 20 years old, so he probably won't get it in his lifetime either. So he is going to be big D. Why so they you know, if we do opponent square of those two, they won't even have the trade in either of their Gino types. So they're not the meal toe. Have kids with it, so you can go ahead and tell them there's no risk for you or very, very little chance of risk for you, this couple, even without doing any genetic testing. However, if we, uh, think about sister of this guy and the brother of this woman right here, this woman is basically the risk in this situation because she could be a carrier. It's possible that her Gina type is big d little d. It's recessive, so she doesn't have it, But she could still be a carrier. And this mail, since there's no history in that family and he is a male, we're gonna assume that he has been depict. Why? So what would be the risk for these two Children? Let's do a quick punnett square, and then you could tell them you know what the risk are is for your offspring. We have the mail on the side. The male Pierre. All right, so if you if you get that done, you can see, um, as always, you're gonna have 50% females and 50% chance of males for your offspring. But here is the key. You know, this mail right here would have the disease because he only has the recessive trait and in his Y chromosome, which can't cover it up so you could tell them that they do definitely have a risk. Um, one of their female offspring could be a carrier and continued to carry it on to the next future generations. But more importantly, 50% of their potential male offspring would have the disease


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