FAQ - Anticipation, Genetic
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Huntington's disease is inherited as a dominant trait that can show genetic anticipation.?

Suppose a parent knows that he or she has inherited a copy of the mutant allele associated with Huntington's disease. What information would the parents need to make an informed prediction about whether their child will develop the symptoms of the disease?

Presymptomatic genetic testing shows which family members are at risk for a certain genetic condition. However, there is no treatment for family members who have an alteration causing Huntington's disease and those who have this alteration are certain to get the disease. Huntington's disease is the product of a gene transmitted in an autosomally dominant inheritance pattern – this means a gene that occurs on one of the twenty-two non-sex human chromosomes and whose effect dominates its normal partner. It is entirely penetrant, which means that if a gene-carrier lives long enough, the disease is inexorably expressed. One peculiarity of Huntington's disease is that the sex of the parent transmitting the abnormal gene seems to play a role in determining the age of disease onset in offspring. Children, both male and female, who fall ill when twenty years old or younger almost invariably have inherited the disease from their fathers. Whether a gene is passed on through an egg or sperm sometimes affects its level of expressivity, a phenomenon called "imprinting." This is one possible explanation for imprinting, - that the number of methyl groups added to a gene vary, depending on the sex of the parent passing on the gene. This differential expression may, in turn, influence the timing of disease onset. Or other modifying genetic factors may alter the timing and expression of the HD gene. The identification and manipulation of these factors may lead to early therapeutic measures: if disease onset could be pushed until later in life, the illness might not be so onerous.

NOTE :- See the reply of Sirzirty, above, who is offering a flawed response. The gene is not inherited from the father alone, but from either of the parents.


It is extremely important to obtain an accurate diagnosis before trying to find a cure. Many diseases and conditions share common symptoms.

The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.

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Hope this helps
matador 89  (+ 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?

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.

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.

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.

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.

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.

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)

How many genetic diseases can be tested for?

I'm wondering how many genetic tests they are able to test for. I know there are already over 1300 different tests available, but how many diseases are there that can be tested for?

many genetic diseases can be tested. Here's the situation. I have cystic fibrosis. There are over 1600 DNA mutations for this illness, any of them can be a diagnosis of this illness. this is just chrome 7. there can be other mutations to chrome 7 for other illnesses, ie candida predisposition, something like that. most hosp/clinics will initially test for the most common mutations and are limited to the 32 most common mutations, pt can fall outside that area. I did. the 23/32 most common were negative. further testing proved that. It was expensive, $1150. out of pocket. took about a month.

For amniotic screening, many genetic diseases can be tested, most common are tested for unless known family hx and specific testing is requested. Ambry genetics does mostly cystic fibrosis.  (+ info)

Is it genetic to feel the cold and heat in different ways from others?

I usually go sleevless even in winter and I'm ok with diving into icey pools straight on but I tried going for a walk today and I couldnt take it because of the little sun that there was.
My family have always lived in Europe, is this genetic?

Possibly, although it could be a different issue as well. Problems with the thyroid can exhibit temperature sensitivity. It's worth to have it checked out by your doctor.  (+ info)

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