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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Does Downs Syndrome Be Transmitted Genetically?

My husband's brother has a 2 year old and her eyes look as if she has Down Syndrome. No one has ever said anything. Now my brother and his wife are about 24-28 weeks pregnant and have been told the unborn baby has a heart defect and 98% positive for Downs. My concern is if it is genetic. My wife and I would like to try for a baby. My brother is not giving us any straight answers about it. Thinking about getting checked by a genetics professional. Any suggestions would be. Great.
Fri, 27 Jun 2014
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Radiologist,  's  Response
Hi,
Thanks for writing in.

Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. Downs syndrome probability increases with the age of the mother and seen more in women above 35 years.

There is a type of Downs syndrome called translocation Downs syndrome. People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation. So the parent is the carrier but does not suffer. This is very rarely seen.
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Does Downs Syndrome Be Transmitted Genetically?

Hi, Thanks for writing in. Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. Downs syndrome probability increases with the age of the mother and seen more in women above 35 years. There is a type of Downs syndrome called translocation Downs syndrome. People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation. So the parent is the carrier but does not suffer. This is very rarely seen.