What are two royal families with hemophilia?
Queen Victoria and the English family, and the Romanovs (actually, just one of their children, Alexei).
When was the disease FOP discovered?
The medical community had recorded some cases that were likely this disorder as far back as the 1800's. It was described as a disease that causes people to "turn into stone". It became more well known in the 1970's with the treatment and eventual death of a patient with the extremely rare genetic disorder who donated his body to science. The gene that causes the progressive ossification of soft tissue to bone, was identified in 2006. It is called FOP disease because the medical name is Fibrodysplasia Ossificans Progressiva. For more information from WikiPedia on FOP, see the related links section below.
What is purpose of gene therapy?
gene therapy is used for making the dna disease free and to help the dna to take a couple to evolution.
Does klinefelter syndrome skip a generation?
No, as people with Klinefelter's syndrome cannot have children and so there would not be another generation. (That is not entirely true, while it is true Klinefelters causes an extra chromosome sperm maybe be found via a testicular extraction in minute amounts. If this is the case you can father a biological child though the chances are small it is not impossible and more and more Klinefelter men are becoming dads. We can also adopt, and while I understand the authors point - the child would be ours and therefore carry our name and continue the generation. Klinefelters IS NOT hereditary. Hope this helped.
Are there distinct facial features in Ehler Danlos type three?
No, there are no distinctive facial features recognized in Ehler Danlos Hypermobility Syndrome (type three.) Recognizable facial features, such as are associated with Marfan's Syndrome, another disorder of the connective tissues, might be useful for diagnosis. Perhaps the nearest thing to a distinct feature for EDS is soft, velvety skin.
Air pollution causes asthama in predisposed people. It triggers asthamatic attack in people who already have asthama.
What happens if you are born without chromosome 16?
Children born without parts of chromosome 16 can have problems with growth disorders and anomalies with the head, face and internal organs.
What is difference between recombinant DNA technology and Polymerase chain reaction?
r DNA technology is technology of creating new combination of DNA.
While pcr is one of techniques used in r DNA technology for amplification of perticuler DNA fragment
What is observed in a karyotype?
A karyotype is basically a chart of the number and structure of chromosomes. They can reveal ploidy differences (missing or additional chromosomes such as trisomy 21) or chromosomal mutations (like inversions, deletions, translocations etc)
How can mistakes occur during meiosis?
Mistakes such as nondisjunction can occur during meiosis. This is the result of chromosomes failing to separate equally during either anaphase. Therefore each resulting cell will not get an equal number of chromosomes. This can result in diseases such as down syndrome (Trisomy 21, where there are 3 copies of the 21st chromosome present instead of the normal 2), or gender complications such as Klinefelter's (XXY) or Turner's (XO) syndromes.
Is Williams syndrome known by different names?
Yes. In Europe, it is called "Williams-Beuren syndrome," since Williams and Beuren each independently described this syndrome.
Can people with Williams syndrome have babies?
No way!
Did Robin Williams have Asperger's Syndrome?
It was never officially announced that he had Asperger's Syndrome. He did, however, suffer from bipolar disorder and depression. In addition, he suffered from a lifetime of alcohol and drug addiction. Sadly, Robin Williams committed suicide in August 2014.
Do people with Klinefelter's syndrome have an inactivated X chromosome or a bar body?
People with Klinefert´s syndrome have one barr body.
Yes , the number of barr bodies in a cell is always equal to the number of X chromosomes minus one. For example in the XXY chromosome there is one Barr body
Is Klinefelter's syndrome preventable?
Not really.
Klinefelter's Syndrome is a genetic issue and as such is NOT preventable at our current level of technology.
I guess it may be possible to check the gene of a foetus and abort if the genotype indicates the condition but that is way too harsh a solution as Klinefelters does not necessarily mean a significantly reduced quality of life for sufferers.
What is relatively easy to address is the symptoms of Klinefelters and the 'golden standard' for treatment is the application of testosterone.
A site that tells you all about Klinefelters is:
http://www.klinefeltersyndrome.us/symtomsinboy.html (symptoms in boys)
they also have a page on the symptoms in men and another on treatment of symptoms.
What types of external stimuli cause mutations?
While this question should be recategorized because external stimuli do not cause the mutations that result in hemophilia, there are many types of radiation that can cause gene mutations as well as chemical exposure.
For example sun light is UV light radiation wich can cause mutations (for example the mutations that result in skin cancer).
What is a description of how gene therapy works?
Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein.
Is achondroplasia a chromosomal defect?
In humans it's an autosomal dominant trait resulting in dwarfism in heterozygotes due to premature closure of the long bone growth plates. In homozygotes the syndrome is lethal shortly after birth as the affected child cannot effectively breathe.
What is urine based newborn metabolic screening?
A urine based test for genetic metabolic disorder screening is done for baby. It diagnoses babies accurately suffering from any genetic metabolic disorder. Since a healthy, functioning metabolism is crucial for life, metabolic disorders are treated very seriously. A broad range of conditions including PKU and MSUDe are classified as metabolic disorders. However not all can be diagnosed and not all have treatment options available. But for few common ones their is hope.
Diagnosing a metabolic disorder can be difficult, as a wide variety of problems create similar symptoms; many patients end up enduring a battery of tests and seeing multiple experts before the root cause of their problems is identified. Simple and safe option is urine based screening for more than 100 disorder. It is non invasive, painless and reliable.
How many chromosomes in a human karyotype?
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryote cell. There are 46 chromosomes in a human karyotype. However, there are twenty-three pairs. In a karyotype, chromosomes are showed in pairs, because twenty-three are from one parent, and twenty-three are from another. In a cell, there are twenty-two pairs of chromosomes called autosomes, and one pair of sex chromosomes. The sex chromosomes are different in a male and a female. For a male, it is one x chromosome and one y chromosome. In a female, it is two x chromosomes. So, as a recap, there are 46 chromosomes. The only exceptions to this are autistic people. For them, there is usually a duplication or deletion of one chromosome. In other words, a person would have 47 or 45 chromosomes.
Will your baby inherit your borderline personality disorder?
while many mental disorders have a proven genetic component, none are inheritable with 100% certainty. it is best to not worry about this.
What problem would people have if they did not have phenylalanine hydroxylase?
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria or PKU. Untreated it can cause:
Intellectual disability, behavioral, emotional and social problems, psychiatric disorders. neurological problems that may include seizures.Fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone and an abnormally small head (microcephaly).
There are different levels of this disorder and a diet very low in proteins can help. This is the first genetic disease that is tested for in infants.
Can you get an army medical waiver if you have klinefelter syndrome?
Yes, klinefelters is waiverable in the us army but the marines or navy will disqualify you if they find out.