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Concerned about childbirth with genetic problems. Family history of Camptomelic Dwarf syndrome. Advice

I gave birth to two children with Camptomelic Dwarf syndrome . one, daughter, full term, died 29 days later in 1973, a son in 1980 who lived 8 hours. In 1977 and 1978 I had early miscarriages In 1975 I gave birth to a normal healthy baby boy, who is now 37 yrs of age. In 1982 I gave birth to a healthy daughter, now age 29 now my daughter has one healthy little boy and has in the last year had 3 miscarriages. What are the chances that she is experiencing the same issue I did?
Asked On : Tue, 6 Nov 2012
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Ayurveda Specialist 's  Response
The CDS is mostly associated with SOX9 gene situated on chromosome number 17 in Humans. An autosomal sex reversal pattern could be seen in such patients.

That means even if patients genetic makeup is of a Male it presents with a female sex and vice a versa.

So it completely depends whether the mutation is carried out in your future generations or not hence it is recommended to go for the genetic testing of such a gene.

This genetic testing is done by DNA sequencing for that specific gene and to find out the mutations on the gene. However it is very costly and done at very rare superspecialty centres ...

There is very limited data available about the condition and its inheritance in man.

My suggestion to you would be that you can keep checking the prenatal genetic makeup of the present pregnancy and can correlate it with the USG with the help of your radiologist.

Also get a karyotype done for the present child of your daughter. The database says childrens carrying such mutations may survive without any problems till 8 to 9 yrs of their age.. I hope now you can understand why I am asking to do that..

I hope that's sufficient for your query. Still if you are having any query you can write me directly with the details ...

Answered: Tue, 21 May 2013
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