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What is the probability that a man and women who both have achondroplasia will lose a child due to double-dominant syndrome?
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What is the probability that the child will get Townes -Brocks Syndrome if the mother has it?
There's a 50% chance the baby will have it too.
If joe has the marfan syndrome and has a child some day what are the probaliblities that his chaild will have marfan?
There is a 100% probability of his child having Marfan's syndrome. The syndrome is carried by the FBN1 gene, and is dominant so there is no way to avoid having the disease. However the severity of it may vary from mild to severe, so his child may suffer from a mild form of the syndrome.
How many people are born with achondroplasia each year?
Approximately 1 in 15,000 to 40,000 births result in a child with achondroplasia each year.
What would be the fate of a child that inherits achondroplasia and why?
There is no specific right answer to this question, there are many factors that will decide the outcome of the quality of life of a person with achondroplasia, 2 of which would be what complications arise and of course the child themselves.
If a couple with normal phenotypes get married and have a child then what is the chance that the child will develope achondroplasia?
People with achondroplasia can be born to parents who don't have the condition. This is the result of a new mutations. New gene mutations leading to achondroplasia are associated with the paternal age effect (over 35 years old). Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis.
What type of inheritance is achondroplasia?
Achondroplasia is inherited by the parents as a dominant disease. It occurs from a defect in the FGFR3 gene. It usually occurs spontaneously. if both parents have the disease they have a 25% chance of having a normal sized child, a 50% chance of having a child with Achondroplasia, and a 25% chance of the child getting both genes from each parent which results in death.
Can Achondroplasia be detected before birth?
Yes, it can be detected before birth. Doctors can use an ultrasound to determine if the child is homozygous dominant or heterozygous, in which cases the child would be infected with Achondroplasia, because it is a dominant trait.
Is achondroplasia a chromosomal defect?
In humans it's an autosomal dominant trait resulting in dwarfism in heterozygotes due to premature closure of the long bone growth plates. In homozygotes the syndrome is lethal shortly after birth as the affected child cannot effectively breathe.
What the age of onset for achondroplasia?
Achondroplasia, is the mutation in the FGFR3 gene that is responsible for turning cartilage into bone. It is noticed through child development due to shortness for their age and other skeletal problems throughout life
How is achondroplasia passed on?
When a mother gives birth (naturally) to a child who has it, the mother may transmit it during birth
How would you determine if your child has Achondroplasia before birth?
I believe the only way to determine if your child has achondroplasia before birth is by having an ultrasound. They would measure the bones to determine if the child is growing accordingly to age, however it has to be done after the 4th or 5th month of pregnancy, because that's when it would show up on the ultrasound.
Would parents pass down syndrome to their future children?
No. Parents who have a child with Down syndrome do not have an increased chance in having another child with Down syndrome. Everyone has the same chance of having a child with Down syndrome, 1%.
