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Genetic Diseases

A genetic disease or disorder is a condition caused by abnormal genes or chromosomes. Some of the more common genetic diseases are Angelman syndrome, celiac disease, cystic fibrosis, Down syndrome, hemophilia, Klinefelter syndrome, sickle-cell disease, and Turner syndrome.

500 Questions

What type of mutation can Williams syndrome cause?

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Asked by Wiki User

It's a genetic defect caused by a deletion of about 26 genes from the long arm of chromosone 7.

Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an

affinity for music.

Williams syndrome affects 1 in 10,000 people worldwide - an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing. Parents often say they could not have imagined the joy and perspective their child with Williams syndrome has brought into their lives. Nearly everyone with Williams syndrome loves music, and for some, there is a musicality and eventual talent for music that is far greater than would be expected based on general functioning levels.

There are major struggles as well. Many babies have life-threatening cardiovascular problems.Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential. Just as important are opportunities for social interaction. Adults with Williams syndrome often experience intense isolation which can lead to depression. They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don't process nuanced social cues and this makes it difficult to form lasting relationships.

Other characteristics common to Williams syndrome are:

Hypercalcemia (elevated blood calcium levels)

Low birth-weight / slow weight gain

Feeding problems

Dental abnormalities

Kidney abnormalities

Hernias

Hyperacusis (sensitive hearing)

Musculoskeletal problems

Information provided by the Williams Syndrome Association (WSA). For additional information, please visit the WSA's web site at http://www.williams-syndrome.org

If you have a Cancer sign does it mean you have cancer?

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Asked by Wiki User

a cancer is a killer disease.... but now it is curable on this time because of technology...

a sign of a cancer has a mass on the parts that you have a cancer for example if you have a lung cancer in x ray a mass is located in your lungs that's all thank you

What is the contraindications for G6PD?

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Asked by Wiki User

Mothballs can kill someone with G6PD Deficiency in a matter of a few hours. As far as food goes... anything with soy in it, and any products made from soy (which there are many). ALL legumes (beans, peas, peanuts, etc.) are also contraindicated. Drugs... there are too many to list. The most complete database of drugs or food is at g6pdeficiency.org. You can type in any food or drug and find out what the contraindications are. You can also join the forum (for free of course) and ask any question you want. The forum members are knowledgeable and experienced on the most recent info regarding all aspects of G6PD. As evidenced by the comments in the forum, from people who have G6PDD, or who have lost friends and loved ones because of it, there is a lot of mis-information floating around the net, and in the medical world. People are sick and dying unnecessarily because of lack of accurate information about this enzymopathy.

What gender are most people with hemophilia?

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Asked by Wiki User

You would get it from your mother. It is a sex-liked genetic disorder.

Females are the carriers, males exhibit the condition.

What are some treatments for klinefelter syndrome?

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Asked by Wiki User

I personally take cypionate testosterone, for the low testosterone my body produces.

It helps produce more testosterone, body hair, muscle, and reduces body fat.

It can not be successfully treated.. but testosterone supplements can make you live a normal life minus some features..etc..

You would have to take these shots, patchs, or gels to live the life as a normal adult/child for the rest of your life.

I personally take them as shots. which seems to work better than Gels or patchs. Gels you put on your shoulders/back, but they can come off when going into water/pools/ocean. Patchs leaves marks on your body, and you mainly have one on your thigh, back, or stomach. The shots are a quick deal they normally go for the buttocks. Because ... it's the biggest muscle and for appearance no one is checking it out :)

Why is an individual with Klinefelter syndrome sterile?

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Asked by Wiki User

By definition Klinefelter's syndrome is genetically XXY. If there is any Y chromosome present, the baby will develop into a boy.

Even if a baby had XXXXY, it would still turn out as a boy.

Who are famous people with Klinefelter's syndrome?

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Asked by Wiki User

Klinefelterâ??s syndrome is the result of additional X genetic material in males and typically causes low testosterone levels, gynecomastia, and infertility. Though there are no documented famous people with this syndrome, some believe that George Washington may have been afflicted.

Can you have a fatal overdose on high blood pressure medication?

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Asked by Wiki User

Yes you can. The LD or Lethal Dosage depends on which med it is, what your heart condition is, and what other conditions apply. While it's rare that a double-dose will prove lethal (as people accidentally take two does of their heart meds all the time), it's a very strong med, and can indeed be lethal. dose it do 75 mg of atenolol

How does down syndrome affect you intellectual?

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Asked by Wiki User

Down syndrome is the most common genetic cause of learning disabilities in children. People with Down syndrome often have trouble remembering things they have learned and have no motivation to remember things that has no physical meaning to them. Down syndrome causes mild to severe mental retardation. Mental retardation is recognized as impaired learning, social, and vocational ability. This means that cognitive development is stunted. Children with Down syndrome often have to learn in special Ed classes, as normal classes may not be meeting the child's learning needs. Although individuals with Down syndrome can graduate high school, most will only have the IQ of an 8 year old. Another common problem with cognitive development for children with Down syndrome is the ability to generalize - to apply what they have learned in one a situation to another situation. Children with Down syndrome often have to be taught one thing multiply times. Short attention spans have been noted in children with Down syndrome.

How can genetic diseases miss a generation?

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Asked by Supersable

Where the gene(s) is/are recessive, a person might also end up with a dominant gene that masks it while then passing it on to any of their own children, who may then be unlucky enough to receive both alleles of the recessive disease gene(s). This makes it possible for the disease to skip mutliple generations and then reappear suddenly for a long time, or to simply miss every second or third.

Can a male with klinefelters syndrome produce a baby without klinefelters syndrome?

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Asked by Wiki User

First a testicular biopsy should be done to determine if he has any viable sperm. Some men with this condition do have some viable sperm in their testicles and if he does, in-vitro fertilization may be a possibility. However, if he does not have any viable sperm, then you would need to use donor sperm to become pregnant. Hope this helps.

What causes a simple goiter and is it heredity?

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Asked by Wiki User

A low dietary intake of iodine.

What is it meant by the term gene therapy?

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Asked by Wiki User

Gene therapy refers to a process of modifying the genetic code in already living beings.

For Example:

Hemophilia is caused by a mutation to the genetic coding found on the X chromosome that prevents the person from creating specific proteins called clotting factors or creating these proteins in low quantities or dysfunctional forms. The genetic coding works almost like a blueprint or recipe. The coding found in a normal person that would tell the body how to make the clotting factors has been ruined by a mutation in a person with hemophilia.

Gene therapy, in this case, tries to correct the information and once again complete the recipe or blueprint. Gene therapy is just now making strides and in the future you can bet gene therapy has a big place in medicine. For right now, however, The most advanced forms of gene therapy is still in trials.

How can heredity affect a child's growth and development?

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Asked by Wiki User

You will have problems with family and many school

How common is hemophilia in the US?

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Asked by Wiki User

Hemophilia in the US is considered rare. Affecting mostly males, it occurs in about 13 of every 100,000 people.

I'm not sure where he is getting his data from, however;

I've heard the number 1/10,000 used many times, however there is no single source of data that does not contradict itself.

According to the US Census Bureau the Population of the United States in 2011 was estimated to be 311, 591,917. According to the Centers for Disease Control, there are only an estimated 20,000 males with hemophilia in the United States and considerably fewer females. If we do the math, we see that 311,591,917 / 20,000 says that there is approximately 1 male with hemophilia for every 15,580 people. This means 10 males in approximately 155,800 people.

If we also include the females into these numbers (for which there is very few females, definitely less than 1 female for every 10 males) we would see at most 11 hemophiliacs (both male & female) / 155,800 people which is equivalent to about 7 in 100,000 people.

The strongest source of data really comes from males born with hemophilia each year. According to the CDC, there are approximately 400 male hemophiliacs born each year wich equates to 1/5000 male births. However we must remember the lower than average age of death that lowers this ratio significantly when looking at the population as a whole. In 20 or 30 more years, this will probably become the default ratio as the health care and safety of medications now offer people with hemophilia near normal life expectancies.

How is glaucoma inherited?

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Asked by Wiki User

Chinese is grerat food and Mary doesnt rock

Where did genetic diseases originate?

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Asked by TrogdortheBurninator

Tuberculosis originated by humans starting back in ancient times during the Neolithic Revolution. Tuberculosis is a infection disease that is widespread and caused by various strains of mycobacteria.

What is the cause of klinefelters syndrome?

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Asked by Wiki User

Klinefelter Syndrome is a genetic condition that affects 1 in 500 to 1,000 male babies. That’s caused by an extra copy of the X chromosome in each cell. (You may recall that humans typically have two chromosomes: females have two X chromosomes, while boys have one X and one Y. For that reason, Klinefelter is sometimes called XXY Syndrome. That extra X causes a number of symptoms, most of which have to do with male sexual development (other symptoms may include learning disabilities, behavioral problems, speech disorders, and problems with balance and coordination). Boys with Klinefelter typically have smaller-than-normal testicles that produce less-than-normal amounts of testosterone. As a result, a Klinefelter boy who’s entering puberty may have little or on body or facial hair, undescended testicles, and sometimes breast development (called gynecomastia). That said, some men have few symptoms and only realize that they have Klinefelter’s when they have trouble impregnating their partner: About 95% of men with Klinefelter’s are infertile. You can get more information on Klinefelter’s here.

Is klinefelter's syndrome an inheritance?

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Asked by Wiki User

It is a condition in which human males have an extra X chromosome. It is inherited when the extra X chromosome is retained because of a nondisjunction event during meiosis I (gametogenesis).

How do you get muscles cancer?

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Asked by Wiki User

Muscle tissue cannot become cancerous. Therefor, no muscle can get cancer.