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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

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.

Are children born to cousins deformed?

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Asked by Wiki User

The risk of birth defects and congenital diseases increases the more closely related the parents are. Deformities, such as polydactylism (many fingers or toes) would be even more common in pairings of siblings than of first cousins, but the risk, while elevated, is not huge and is definitely not a certainty.

Many people have successfully had children with their first cousin. Charles Darwin married his first cousin, who bore him a number of children.

The practice is discouraged in some communities, but not in others.

How the karyotypes of klinefelter syndrome differ from the normal karyotypes?

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Asked by Wiki User

The karyotype of a person with Down Syndrome differs from a normal karyotype because it contains a three chromosomes in the 21st slot, where there should only be a pair of two. That is why this is called Trisomy 21.

Is klinefelter's syndrome caused by a mutation?

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Asked by Wiki User

No it is caused by the Non-Disjunction of sex Chromosomes. Males with Klinefelter's syndrome have an extra X chromosome.

What races does klinefelter syndrome effect?

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Asked by Wiki User

It most commonly affects males who are born to women over the age of 35.

Can Chloramphenicol eye ointment be used on mouth cold sores?

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Asked by Wiki User

my daughter was prescribed this by a doctor for cold sores / impetigo

How can you tell if you have Klinefelter's Syndrome?

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Asked by Wiki User

Klinefelter syndrome is most often diagnosed in adulthood using a karyotype, an analysis of the patient's chromosomes taken from a blood sample. Klinefelter syndrome may also be diagnosed during a woman's pregnancy. Doctors can look for the chromosome abnormality in cells taken from the amniotic fluid that surrounds the fetus (amniocentesis), or from the placenta (chorionic villus sampling (CVS)).

How many people have alpha-1 antitrypsin deficiency?

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Asked by Wiki User

It's not such a simple answer I'm afraid.

If you are asking how many people have 2 deficient genes for the production of Alpha-1 Antitrypsin in the liver (and other parts of the body) then the answer is between 1 in 2000 live Caucasian births to one in ever 10 or 20,000.

Right now in the USA and Canada there are roughly 10,000 identified alphas and estimates of another 90,000 undiagnosed or misdiagnosed.

It is the number one autosomal recessive genetic condition humans face.

As with many such conditions, having the deficiency is not a disease in and of itself. Being deficient simply means that you any or all of the skin, liver and/or lung diseases that can occur because of the deficiency.

What does a child with Klinefelter's syndrome look like?

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Asked by Wiki User

A child with Klinefelter syndrome does not usually have any prominent features. Any physical characteristics are subtle. They may have curved little fingers (clinodactyly), difiiculty straightening out the arms completely (radioulnar synostosis), an armspan that exceeds height, a depression in the chest (pectus excavatim), occasionally undescended testicles or hypospadias (urethra under the penis rather than at the tip), leg length greater than head to seat height. Children with xxy may have low muscke tone, and may have delays indevloping lnguage. Some appear to have mild autism.

Why is it necessary to study genetic disorders?

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Asked by Wiki User

1. An understanding of the evolutionary past and relatedness of genes makes predicting genetic factors involved in various syndromes easier.

2. That same understanding helps find us possible treatments.

3. Knowledge of the relatedness of genes helps us to evaluate the effectiveness of treatments before clinical testing begins.

All of these things could possibly be accomplished without knowledge of the evolutionary past and relatedness of lineages, but at much greater cost, and using much more time.

What are some screening tests for Williams syndrome?

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Asked by Wiki User

Diagnosis requires the use of a special test called fluorescence in situ hybridization (FISH) in which a DNA probe for the elastin gene is labeled with a brightly colored fluorescent dye.

Is a allergie a recessive or a dominant?

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Asked by Wiki User

It depends on the allergy, I assume. Some allergies may be recessive while others are dominant, while others still may be completely unrelated to genes.

Are there Genetic Diseases similar to Wilson disease?

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Asked by Wiki User

I'm not a doctor. I don't know that the diagnoses of lyme and wilson's would normally overlap, but my husband is an atypical case. He has late stage neurological lyme disease and the doctors are testing him for Wilson's disease as a differential diagnosis. I think mostly to rule it out. His

Looking into Wilson's because:
My husband is in his 20s,
has dystonia and myoclonic jerks,
as well as emotional and cognitive changes.
Slightly elevated liver enzymes
his ceruloplasmin test came back in range, but on the very low end of normal

He doesn't recall a tickbite and never noticed a bullseye rash but has tested positive for lyme.

What causes autism spectrum disorders?

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Asked by Wiki User

Response:Researchers and mental health experts are still investigating the causes of autism and AS. Many believe that the pattern of behavior that characterizes AS may have many causes. There seems to be a hereditary component to AS, and research indicates that in some cases AS may be associated with other mental health disorders such as depression and bipolar disorder. Researchers are also looking into whether environmental factors that affect brain development might play a role. Contrary to the incorrect assumptions some may make about people with the disorder, AS is not caused by emotional deprivation or the way a person has been brought up. Because some of the behaviors exhibited by someone with AS may be seen by others as intentionally rude, many people wrongly assume that AS is the result of bad parenting - it isn't. It's a neurobiological disorder whose causes are not yet fully understood. Currently, there is no cure for the disorder - kids with AS become adults with AS. But many lead full and happy lives, and the likelihood of achieving this is enhanced with appropriate education, support, and resources. Response:The actual causes of Asperger's disorder are unknown, and there is no real cure.

Nor is there much known agreement on what the best courses of treatment are beyond management of the demonstrated symptoms, deficits, and maladjustments. But persons with Asperger's can live comparatively normal lives.

Response:Asperger's Syndrome and autism are more likely to occur in families that already have people with those conditions in them. Children of men over age 40 are more likely to have children with autism spectrum disorders than men who are under age 30 when they have their children. The researchers had not determined whether this was due to sociocultural factors, more genetic mutations in sperm-producing cells as one ages, or something else.

The article "Combination of Early Detection, Timely Treatment Hold Promise for Autism" indicates that older fathers and mothers, low birth weights, shorter pregnancies, and too little oxygen during birth might "be associated with an increased risk for autism spectrum disorders". Another study shows that mothers who take the epilepsy drug valproate while pregnant are more likely to have children with autism. These are early findings, so valproate might not be the cause, and it might instead have more to do with which epileptic women are prescribed valproate.

In the related links section are articles from ScienceDaily.com on autism research, including the one on older fathers. There are additional links on genetic studies of autism in the related question "Which chromosome is associated with Asperger's Syndrome?"

Response:Asperger's is believed to be hereditary, however it occurs more on the male side than the female side. I have Asperger's (diagnosed), and my dad has suspected Asperger's (undiagnosed), and it is the same of many people at our local Asperger's group - most of the adults are undiagnosed because the NHS ignored Asperger's up until about the 1990's and so many adults were missed, but are now thought to have AS as they have similar behaviour problems to their sons who have Asperger's, but now the NHS isn't really bothered about patching up the problems it made. Primarily focusing on those under 25.

That doesn't mean that no female has Asperger's, there are a few females with Asperger's, for example Claire Sainsbury - author of Martian in the Playground and daughter of Lord Sainsbury (owner of Sainsbury's Supermarkets in the UK) has Asperger's (the book Martian in the Playground is her story of how she was treated at school with Asperger's).

Quite ironically as well when Grange Hill depicted someone with Asperger's at the school that person also was female, maybe the research team should have done better homework on that one!

With Asperger's being a DNA mutation there will be an increase over time in the number of people who have AS - for example one person with AS has 3 children, 2 of which have AS, then they go on again and have another 3 children and 2 of them also have AS that's 4 people with AS, and the other person who doesn't have AS has the DNA and passes it on to their children you could possibly have up to 9 people with AS from one family in two generations (maybe even more if they have even more children).

Also despite people with Asperger's lacking social skills and finding it hard to make friends, or be romantically involved, with recent changes in communication through the Internet social skills are becoming less and less of a necessity, thus further increasing the Asperger's population.

Response:it comes usually by genetics.

How might infusing dye into cells be a useful tool for diagnosing or treating diseases?

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Asked by Wiki User

It helps scientist see the disease better so that they can diagnose it

Is muscluar dystrophy sex-linked?

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Asked by Wiki User

Yes, it is X linked recessive.

What are autism spectrum disorders?

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Asked by Wiki User

Autism spectrum disorders (ASD), also known as pervasive developmental disorders (PDD), are conditions with various levels of impaired communication skills, impaired social skills, and repetitive behaviors or interests. Sensory issues are also very common in the autism spectrum disorders. These disorders are neither diseases nor mental illnesses. Pervasive developmental disorders are a type of developmental disorder, as the name implies.

There are five disorders included in autism spectrum disorders: autism (sometimes called Kanner's Syndrome), Asperger's Syndrome (AS), pervasive developmental disorder not otherwise specified (PDD-NOS), Rett Syndrome, and childhood disintegrative disorder (also known as Heller's Syndrome). Autism or autistic disorder is the most well-known of the PDDs. Characteristics of autism are impaired social skills, impaired communication skills, repetitive behaviors or interests, and abnormal or delayed skills in social interaction, language use, or play. It usually becomes apparent by age three. It is more often diagnosed in males than in females.

Rett Syndrome is the least common diagnosis. Most people with Rett Syndrome are female. They seem to have normal prenatal development and continue to develop apparently normally for the first five to 18 months. After that period, head growth decelerates, hand skills decline, social engagement with others disappears, walking appears uncoordinated, language is severely impaired, and psychomotor skills are severely impaired. The child regresses. Children who had been able to talk, stop. Children who previously enjoyed social contact now start pulling away from it. Most of those with Rett Syndrome end up in wheelchairs. Childhood disintegrative disorder is another rare autism spectrum disorder. It is diagnosed using norm-referenced tests, not parental accounts. In can be misdiagnosed as late-onset autism. These children develop apparently normally for the first two years. Then, between the ages of three and four, they have a significant loss of skills in at least two of the following areas over the next few years: communication skills, social skills, motor skills, play skills, and control of bowel and/or bladder functions. They also engage in repetitive behaviors or interests. It can also be accompanied by seizures and extremely low IQ.

Asperger's Syndrome also involves impaired social skills and repetitive behaviors or interests, but no clinically significant delay in cognitive development and language development (except socially). This condition was once labeled as infantile schizophrenia.

Pervasive developmental disorder - not otherwise specified is used to describe a condition that matches the characteristics of a pervasive developmental disorder (impaired social skills, impaired language skills, and repetitive behaviors or interests), but does not seem to match any of the other four pervasive developmental disorders.

No single behavior can be used to identify an autism spectrum disorder. Other conditions can have similar symptoms. Also the impairments can range from mild to severe, so you cannot rule out the condition simply because one impairment seems relatively mild. Some of these behaviors occur in most children. However, the frequency and duration of these behaviors are atypical for the child's age group.

Is there any genetic diseases that we've cured yet?

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Asked by Wiki User

Im not sure about cured but we know the genes that cause some genetic diseases such as huntingtons

What is the Mode of inheritance hemophilia?

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Asked by Wiki User

Transmitted by a dominant gene. If that gene is inherited from either parent, the offspring will develop HD. If the gene is NOT inherited, then the offspring will not have HD- AND cannot pass the gene to their offspring.