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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Gain On Chromosome 17q12, Congenital Reproductive Defect, Hearing Loss, On G-tube. Treatment?

Both my son and daughter have a gain on chromosome 17q12. What does this mean? History; My son was a 28 weaker and now is 10 yr he has a G-tube, and my daughter was 31weeker and now is 7yr and is deaf in her left ear and hard of hearing in her left. Both where born early due to a congenital reproductive defect, I was born with a unicornic uterus only the right half developed, and left pelvic kidney.
Sat, 6 Jul 2013
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Ayurveda Specialist 's  Response
A very limited sort of information is provided by you over here... In field of genetics it depends upon the complete evaluation in all aspects as the things does not stay to an individual and is going to effect his/her family.

The region you described here (17q12) is where is much to elaborate like on 17th chromosome a gain is seen at 2nd place of 1st band on its Q arm.

This doesnot states the complete thing in any means because there are several many genes are located at the region like MODY, LHX etc.. and minute mutation in any gene may cause the subtle anomaly.

Further we do not know whether the gain is from same chromosome or from somewhere else?

Hence, I request you that you should see to a geneticist nearby to you with the complete details and reports whatever are produced till yet. If you are staying in developed country it will be quiet easy. However, if you are dwelling in a developing country you can seek an online consultation as these services are not much developed at such places or you have to find it hard.

Although there are no treatments are available today for the genetic defects but the prognosis could be made good with the precautions taking for such disorders at an early stage.

Hope the information satisfy your query.

Regards
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Gain On Chromosome 17q12, Congenital Reproductive Defect, Hearing Loss, On G-tube. Treatment?

A very limited sort of information is provided by you over here... In field of genetics it depends upon the complete evaluation in all aspects as the things does not stay to an individual and is going to effect his/her family. The region you described here (17q12) is where is much to elaborate like on 17th chromosome a gain is seen at 2nd place of 1st band on its Q arm. This doesnot states the complete thing in any means because there are several many genes are located at the region like MODY, LHX etc.. and minute mutation in any gene may cause the subtle anomaly. Further we do not know whether the gain is from same chromosome or from somewhere else? Hence, I request you that you should see to a geneticist nearby to you with the complete details and reports whatever are produced till yet. If you are staying in developed country it will be quiet easy. However, if you are dwelling in a developing country you can seek an online consultation as these services are not much developed at such places or you have to find it hard. Although there are no treatments are available today for the genetic defects but the prognosis could be made good with the precautions taking for such disorders at an early stage. Hope the information satisfy your query. Regards