FAQ - Translocation, Genetic
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What are the symptoms of Translocation(genetic disorder)?


I am a parent of a child with an unbalanced translocation of two chromosomes, resulting in a rare genetic syndrome. Symptoms would really depend on the syndromes associated with whatever chromosomes are involved. In an unbalanced situation, the results can vary greatly, depending on whether it is additional genetic material or a deletion of material on the chromosomes. There are many ways that translocations can affect a person.

I have a "balanced" translocation, which in turn led to my son having his syndrome, but the balanced situation with me has no symptoms. Only genetic testing will show this type of situation. I did not know that I had anything different until my son was born. We have an older son who we now know has the same balanced translocation as I have. He will have genetic counseling when he is ready to start a family. Otherwise, his translocation is not an issue in his life.  (+ info)

Is it possilbe to be unable to conceive male children due to chromosome translocation?


It started with my grandmother, she is the first in the family with the problem. She has four girls, one of which is my mother. All four have the same chromosome translocation of 4/10 as well as myself my sister & godchild. My mother was told this would cause us not to produce male children. Me and my husband are trying to conceive and I'm looking for answers.
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I think there has been some debate about this. My grandmother had 3 girls, my mom had 2 girls, my aunt had 4 boys. There were rumblings among them all that their miscarriages (and my grandmothers stillborn boy) that they were of the opposite gender. This doesn't make sense in my eyes that my grandmother conceived and carried a boy to full term though.

I think it solely depends on the science of the situation. There is some crazy method about 12 hrs before or 12 hrs after ovulation to conceive a boy or something like that. Honestly, a healthy baby is a blessing, boy or girl. Good luck on conceiving and remember in the end, boy or girl, your baby will be your blessing. Let science take over and maybe your hubby has strong swimmers and you'll get 2 boys!

xx!baby dust!xx  (+ info)

Has anyone had a baby when their partner is carrier of balanced translocation?


Hi All

I have been pregnant 4 times in last 8 months (lost one at 12 weeks and others at 4 weeks). They believe they are due to my husband being a carrier of a balanced translocation but have said that if we just keep trying we will conceive a healthy baby. I just wondered what other peoples stories where? Thanks xx
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Treatment for Balanced Translocation:

There is no cure for balanced translocation, and in most cases, the only adverse effect on health is recurrent miscarriages. For couples affected by balanced translocation, odds are in favor of a successful pregnancy at some point, but repeated miscarriages can obviously be difficult to cope with emotionally.

In some cases, couples with balanced translocation can opt for a treatment called preimplantation genetic diagnosis (PGD). In PGD, the couple conceives via in-vitro fertilization along with gene testing of the embryos to be sure that they do not have an unbalanced translocation.

PGD is very expensive, however, and not covered by insurance much of the time, which is another reason why many couples are forced to keep trying without intervention.  (+ info)

How important is genetic screening for IVF babies?


IVF babies are at an increased risk of genetic disorders in future. As per British Infertility Society, there is a 26 % increased chance of the IVF babies to suffer from a genetic problem. Therefore Genetic Screening, also known as Newborn Genetic Screening is of utmost importance after the birth.
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What support groups and genetic counselors are there for the genetic disorder: familial hypercholesterolemia?


We are a group of high school students who need to contact a genetic counselor or support group about familial hypercholesterolemia for a biology project. Are there any genetic counselors or groups that you know of?
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Couldn't find any support groups, but I found the NSGC (National Society of Genetic Counselors) website www.nsgc.org. The menu on the left allows you to search for genetic counselors by specialty or by geography. Hope that helps. Sorry I couldn't find a support group!  (+ info)

What are the monetary costs and an outline of genetic tests during pregnancy? Anyone have good links to info?


I was wondering when is it typical to do genetic testing during a pregnancy, how much does it cost (does insurance ever cover?), what can be tested for, and what are the dangers of genetic testing during pregnancy.
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i will try to answer ...........  (+ info)

What are the genetic risk associated with having a baby with your first cousin once removed?


I am interested in knowing if anyone has ever had a baby or know of anyone who has had a baby with their first cousin once removed and if so what if any were the genetic disorders, or possible genetic disorders.
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my cousin had three with hers, he is also her husband. no problems at all. after the first cousin level you don't worry.  (+ info)

Can someone give me a rare genetic disorder to write a paper on?


I need to write a paper on a genetic disorder. It has to be something not in my biology book so that's why I want a rare one. Can anyone list some? Perhaps some interesting ones? Thanks.
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MY TOP 3 FAVORITE GENETIC DISORDERS I LEARNED ABOUT IN MED SCHOOL:
1. Alkaptonuria- when your pee turns black when exposed to air
2. Huntington's- when people have abnormal jerky body movements
3. Pseudoxanthoma elasticum- when a 20 year old person has the lose skin of an 80 year old

Good Luck!  (+ info)

What genetic disease kills you at 13-16, but is only diagnosed when you are dying because there is no symptoms?


I have might have to write the first chapter of a novel for an english project, and I was thinking of a plot, and 1 of the main characters is to die. He is going to die at a young age (13-16), and i don't want him to die of cancer, so i need a genetic disease that can only be diagnosed once he is close to dying because he has no visual symptoms, and he had no disabilities as such.
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Cystic Fibrosis can present somewhat like that. The kids tend to have a lot of colds and a bit of a rough stomach, but if it's not suspected, people can just think they're just the sick kid. Unfortunately, as the disease progresses, the lung has more and more damage/infection, and most people die in their teens/twenties.  (+ info)

What is the purpose of a genetic sonogram?


I already had the first trimester screening and it came back normal. I'm probably going to have amniocentesis because my husband is a worry wort and wants to know everything. I'm scheduled for a genetic sonogram because my genetic counselor recommended it when I first met with her, but now I'm thinking, what's the point? What kind of information does genetic sonogram provide that first trimester screening and amnio does not provide? Upon quick internet search, it looks like its just to test for trisomy.
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The screening in the first trimester is probably just to see baby in the right place in the uterus and make sure heartbeat is strong etc.

As for the amnio...I would wait on that and make sure the more inclusive "genetic" sonogram comes back without any reason for concern. They can tell a lot with that without being invasive like an amnio.

Unless you have a family history of problems, you are over 35 yrs old or you have used a drug in pregnancy that could cause problems, I wouldnt stress so much about it.

Trisomies are really the only thing they can look for...an amnio is more specific..but comes with its own dangers. Not as high as they used to be, but still.  (+ info)

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