Get your Health question answered in 3 easy steps
A Doctor will be with you shortly
Ask a Doctor Now
120 Doctors are Online

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
Answers:  1 Views:  41
Report Abuse
Share on Facebook
Share on Twitter
Share on Google+
Question is related to
Diseases and Conditions
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
I find this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer. For a more detailed, immediate answer, try our premium service [Sample answer]


Loading Online Doctors....
© Ebix, Inc. All Rights Reserved.
All the information, content and live chat provided on the site is intended to be for informational purposes only, and not a substitute for professional or medical advice. You should always speak with your doctor before you follow anything that you read on this website. Any health question asked on this site will be visible to the people who browse this site. Hence, the user assumes the responsibility not to divulge any personally identifiable information in the question. Use of this site is subject to our Terms & Conditions
Already Rated.
Your rating:

Ask a Doctor