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Dr. Andrew Rynne

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Normal Stature Girl Born To Achondroplasia Parents, Partner Has Normal Stature. Offspring With Achondroplasia?

A normal stature girl is born to two parents with achondroplasia who have very short stature, especially disproportionately short arms and legs. What is the probability (by Punnett Square analysis) that any pregnancy this girl eventually has will result in the birth of an infant with achondroplasia ( autosomal dominant) if her partner also has normal stature?
Fri, 28 Jun 2013
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General & Family Physician,  's  Response
Hello user
There are many inheritance pattern for achondroplasia not just dominant and it can be known only by genetic testing of the individual.
I don't think its possible to have a normal stature girl with affected parents if its autosomal dominant. So it must be due to sporadic mutation in parents, which has not been transferred to the girl.

I can not surely tell the probability, but I can surely tell that if the girl does not have any dominant gene than her child will be absolutely normal, which can be known only be genetic testing.

hope my info helped you
regards,
Dr Hari Om Chandrakar
MBBS
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Normal Stature Girl Born To Achondroplasia Parents, Partner Has Normal Stature. Offspring With Achondroplasia?

Hello user There are many inheritance pattern for achondroplasia not just dominant and it can be known only by genetic testing of the individual. I don t think its possible to have a normal stature girl with affected parents if its autosomal dominant. So it must be due to sporadic mutation in parents, which has not been transferred to the girl. I can not surely tell the probability, but I can surely tell that if the girl does not have any dominant gene than her child will be absolutely normal, which can be known only be genetic testing. hope my info helped you regards, Dr Hari Om Chandrakar MBBS