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Dr. David
Dr. David, Board Certified MD
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Experience:  Board Certified Physician
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Healthy parents had two daughters one healthy another with

Customer Question

Healthy parents had two daughters one healthy another with chondrodystrophia. I would like to understand if healthy daughter will have 100% healthy kids or there is probability of her kids to be same as her sister going forward. In other words is she carrying defective genes?
Submitted: 2 months ago.
Category: Medical
Expert:  Dr. David replied 2 months ago.

This is Dr. David. I am reviewing your question now and will be with you momentarily.

Expert:  Dr. David replied 2 months ago.

Chondrodystrophy is an autosomal recessive disorder, meaning that in order for this disease to be expressed, the affected individual must possess two copies of the allele for the disorder. The inheritance of the chondrodystrophy gene is as follows:

https://en.wikipedia.org/wiki/Chondrodystrophy#Inheritance

if the healthy daughter marries someone else who is a marrier of the chondrodystrophy gene, they could have 1/4 chance to have a child with chondrodystrophy

the healthy daughter and partner should undergo genetic testing and genetic consultation prior to having children to check for this recessive gene.

let me know if you have questions.

Customer: replied 2 months ago.
Thanks,I was under an impression that healthy daughter would be free of this autosomal recessive disorder. Without doing genetics test how much is probability of healthy daughter not being carrier of this disorder?Also I know this is a long shot but can you determine whether affected daughter has chondrodystrophy or other similar condition e.g. Achondroplasia by looking at picture?BR,
Irakli
Expert:  Dr. David replied 2 months ago.

she has a 50% chance of being a carrier of the receive gene and a 25% chance of having having the gene at all.

just from a photo, we most likely can't tell about Achondroplasia which is a form of short-limbed dwarfism

let me know if you have other questions.

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