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Inherited Disorders and Birth Defects

Genetic disorders

11/16/2007

Question:

My husband is my cousin. My first miscarige was in 2005. She have mental diability and then I was pregnant in March 2007 and again miscarige after 2 months pregnancy. Now I am pregnant again in Sept 2007 and I am feeling fever in my first trimaster and I am worried. In my family no one is born with any mental disability or any physical disability and my husband familiy also not have any kind of mental or physical disablity and now doc said to us that you have any kind of chromosomal disorser. Help me. I am so worried. Is there any treatment?

Answer:

Your doctor may be thinking that one of you is a carrier of a chromosomal balanced translocation. Chromosomal translocations can be tricky to understand. A balanced translocation occurs when two pieces of chromosomes break off and switch places with each other. If all the chromosome material is present but just rearranged (translocated) - this person should have no health problems since all of the chromosome material needed is present and functioning properly. This is called a balanced translocation. There is no way to tell whether or not a person has one of these rearrangements unless you look at his or her blood to examine the chromosomes.

However, there can be problems if some of the chromosomal material that was switched is lost or duplicated when the chromosomes broke and the switch took place – then there is extra and / or missing information that can lead to birth defects and cognitive problems such as mental retardation. This is an unbalanced translocation.

Usually the eggs or sperm that produce an unbalanced chromosome rearrangement are miscarried. So most of the time, a woman or a man who are carriers of a balanced chromosomal translocation will have children with normal chromosomes or will miscarry.

While most pregnancies that have an unbalanced chromosome rearrangement are miscarried. If they do not miscarry then there are usually birth defects and mental retardation. These problems can range from mild to severe.

Unfortunately, there is no treatment for someone who is a carrier of a balanced chromosome translocation. The only medical help is to see if you or your husband is a carrier for a chromosome translocation and then during a pregnancy, look at the baby’s chromosome by doing an amniocentesis during the second trimester.

I would recommend that you talk to a geneticist or genetic counselor about this if possible. They have expertise in this area.

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University