Genetic Diseases

Parent Category: Conditions and 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.
Down syndrome is caused by the presence of an extra 21stchromosome. Instead of the typical 2 copies, a person with DS willhave 3 copies (known as a trisomy). Down syndrome is not a mutation, but is usually an inheritedcondition due to the extra genetic material in one of the parents'egg or sperm,...
Genetics is the scientific study of inherited variation. Human genetics , then, is the scientific study of inheritedhuman variation. Two research approaches were historically important in helpinginvestigators understand the biological basis of heredity Heart care Manipal Hopsitals india
thought i would be nice and put 10 :) these are the most common . Familial combined hyperlipidemia - 5.0 . Familial hypercholesterolemia - 2.0 . Dominant otosclerosis - 1.0 . Adult polycystic kidney disease - 0.8 . Multiple exostoses - 0.5 . Huntington's disease - 0.5 . Fragile X-syndrome - 0.5 ....
yes although if someone in your family has cf you can go to the doctors and get tested. aparently some carrriers have cf symptoms too
Yes, it's caused by a defect in the intrinsic clotting factor IX.
It is an autosomal recessive disorder that mostly affects theNervous System by destroying nerve cells and the brain and spinalcord.
Depend on the age of onset but anywhere from death, loss of sight, loss of hearing, paralysis..etc in babies to cognitive, motor, swallowing, and speech difficulties to even psychosis in adults.
Gene therapy may end up in triggering immune response against the introduced gene. It (gene) may also become non functional or lost after a generation. Chance of inducing caner if the gene is integrated in a wrong place is very risky.
Its absolutely horrible. Your day is full of medicine and coughing. So yeah, it pretty much sucks.
right now they do not have a cure for Cystic Fibrosis
Down syndrome is an abnormality that occurs within a persons chromosomes. Sperm and eggs both have 23 chromosomes each. When combined to make a baby the new entity has 46 chromosomes. If there is an abnormality (which you cannot control) the baby will be born with 47 chromosomes, which will give it...
Person having klinefelter's syndrome disorder have risk ofdeveloping breast cancer and osteoporosis as it affects one out of500-1000 newborn males
There are an infinite number of medicines that CF patients may use, but only five are available exclusively for CF patients. Tobramycin, an antibiotic, comes in two forms, known and Tobi and Tobra. Tobi is inhaled through a nebulizer, while Tobra is given intravenously through a PICCline, peripheral...
1. Find a local organization that helps with this thing. 2. Come up with ways that the parent and the child can both learn and spend quality time together.
Mutation of a gene is not necessary for Klinefelter's Syndrome. Itis an autosomal disorder meaning that an entire chromosome failedto disjunction during anaphase and so there are 2 X chromosomes anda Y chromosome.
When? At conception. How? when a change or mutation to single a gene.
It can be used to cure by placing the healthy gene or DNA in place of mutated DNA to cure any genetic disorder or cancers. Current therapy is to use drugs (chemicals) to solve problems. But gene therapy make a promise of complete cure if the gene is inserted completely in the deficient or damaged...
You would get it from your mother. It is a sex-liked geneticdisorder. Females are the carriers, males exhibit the condition.
Klinefelter's, is a mutation, so a person with such disease, would have normal parents (XY, XX). Klinefelter's is the result of nondisjunction of the sex chromosomes, causing trisomy of the sex chromosome, (XXY) not because of a mutation in the somatic cells of the parents, but instead of the...
No it is caused by the Non-Disjunction of sex Chromosomes. Males with Klinefelter's syndrome have an extra X chromosome.
The chances of getting down syndrome depends on the mothers age. The younger the mother, the higher the chance. The older the mother, the smaller the chance.
You and me. No special marks or anything physical except the random twitches and muscle movement. Many people would find the actual question itself insulting...
A baby will have an extra 21st chromosome on each strain of theirDNA. This means on each DNA set there are three of 21 instead oftwo, which is why Down Syndrome is also referred to as Trisonomy21.
Hemophilia can be fatal to a baby if the child is too young to realize he or she can bleed to death and if he or she fails to report a bleed. Usually a baby under two cannot tell you if he or she is bleeding but the child will scream when hurt. Two to Three year old children can be taught to report...
Depends. If your mother has cystic fibrosis and your father is a carrier, there is a 50% chance that any of their children will have cystic fibrosis. If the father is not a carrier, no children will have cystic fibrosis, but they will all be carriers.
Tuberculosis Histoplasmosis Extrinsic allergic alveolitis Silicosis Coal workers pneumoconiosis Ankylosing spondylitis Radiotherapy Sarcoidosis
Turner syndrome can rarely be inherited
CF is often accompanied by the following symptoms... . Thick, viscous mucus secretions in the lungs . Repeated infections: The accumulation of sticky, thick mucus in the lungs creates a favorable environment for infectious microorganisms to inhabit and flourish. . Stools, pale or clay colored ,...
The majority of Down syndrome cases are not hereditary. Only in cases of Translocation Down syndrome is this then possible. These inherited cases then occur because one of the parents is a carrier. A carrier will have 45 chromosomes instead of 46 but they will have all the genetic material of a...
NO, it is caused by the Trisomy of the human chromosome 21
Haemophilia is a congenital disorder, those that have it were bornwith it and it manifests early in life.
No real way to answer, since there is no way to know how long ANY one person will live. HD DOES shorten your life expectancy, by it varies person to person. For a very few people that have juvenile HD, symptoms appear when they are a few years old, and their lives may be very short. Adults may...
Yes of course, people with hemophilia live with it there whole lives so they learn to be very cautious.
Down syndrome's physical features include a thick neck, high body fat percentile, a receding chin, a larger than normal tongue, and small eyes.
You cannot be a carrier of the disease, Either you have it, and offspring can inherit it, or you don't- and it stops there.
It depends on the person, but I think it is because they look strange compared to normal people, so that they are almost scared. More detail: The above answer is correct; some people do tend to be afraid of those who are different. It also puts a bit of subliminal thought in them, thinking ...
Huntington's is a neurological disease that affects the brain.
reduced muscle mass, reduced body and facial hair, and enlargedbreast tissue. The effects of Klinefelter syndrome
\nNo genetically normal female can have classic Haemophilia, or Factor V111 deficiency. If a female has it, the Dr will probably suggest genetic testing. Classic Haemophilia is carried by and passed on through females, and the men get the illness itself.
My daughter had Cystic Fibrosis and Down Syndrome. She died a little over a year ago at the age of 10.5 years.
genetic diseases are passed through by generaions because the parents of a child may have x or Y(lets juse say Y is a genetic deisease) in their genes. Y would be the dominant trait so it would make the child have that disease. Sometimes the parents don't have the disease but they can still pass it...
i just learned this..when the woman is pregnant with a baby, the doctors insert a needle that is very big and poke it into the amniotic sac and take some fluid from it. they test the fluid to check if the baby has down syndrome.
The production of clotting factor proteins (the treatment for hemophilia) has many different parts. While much of the clotting factor protein used to treat hemophilia is recombinant (I'll explain this term in the next paragraph) I feel it important to also point out that a lot of the medications are...
The cause of Down Syndrome was discovered in 1958 by JérômeLejeune.
nothing can cure down syndrome but physical and speech therapy help
It makes life harder and the quality really isn't the same anymore.
Huntington's disease is an incurable hereditary disease that affect the motor neruons in the brain, causing misfiring and eventually nerve and cell death. Its sufferers beginto get jerky, parkinsons like movement, which in late stages becomes detremental to physical health. Although Huntington's...
A medical physician can run a test known as the chloride sweat test that can be used to help diagnose cystic fibrosis. Cystic Fibrosis is a systemic disease that primarily affects the lungs and causes thick mucous secretions to build up in the airway and therefore causes breathing problems.
In order for there to be a carrier, the disease must be recessive and the carrier must be heterozygous.
There are no vaccinations available. The causes and risks factors are maternal age. Have babies at early age as the risks increases with age. About 1:2000 live births in age 20 to 1:300 at age 35 to 1:40 at age 45..
well actually...... united stated and canatian research team found it found in the 1930's or around there
There is a limited degree of treatment of some of the symptoms of HD, and research is continuing- we know more now that we did last year, and there is hope for the future. At this time, there is no cure.
It is not possible to avoid having a pregnancy that carries a baby with Down syndrome. It is only during pregnancy that some tests can be done -- like triple (blood) test; amniocentesis (Fisher test) -- (after 12 weeks, 16-18 weeks of pregnancy), to know if the baby has Downs or not. Depending on...
You could use a Punett Square for Huntington's disease, but why bother? If one parent has the disease, there is a 50% chance that a child will get it. The other factor involved is that with gene therapy advancing so fast, it is possible that it will be possible to replace a single gene in a...
Absolutely not! Autism and Down syndrome have little to nothing in common.
most patients with cystic fibrosis usually will live til there 30-40 sometimes older
Hutchinson and Gilford
Because of modern technology, it's now possible for people with cri-du-chat syndrome to live up to adulthood. In the overall population the mortality of the syndrome is 6-8%, making the survival rate 92-94%.
Down syndrome is a chromosomal disorder. It is caused by having 1 extra chromosome (chromosome 21).
The "epicanthic fold" -- also called epicanthus -- is a fold of skin on the upper eyelid that partially covers the inner corner of the eye. Some people with Down syndrome manifest such a fold.