Even though these characteristics were sometimes seen running in families, chromosomes appeared grossly normal. Dr John Opitz, a former student of Dr. Noonan, first began to call the condition "Noonan Syndrome" when he saw children who looked like those whom Dr. Noonan had described. Dr. Noonan later produced a paper entitled "Hypertelorism with Turner Phenotype", and in 1971 at the Symposium of Cardiovascular defects, the name 'Noonan Syndrome' became officially recognized. Noonan Syndrome Is a very common disease that has been tested a found out that 1 in 1,000 to 2,500 people have this disease.” Symptoms - * Delayed puberty * Down-slanting or wide-set eyes * Hearing loss (varies) * Low-set or abnormally shaped ears * Mild mental retardation (only in about 25% of cases) * Sagging eyelids (ptosis) * Short stature * Small penis * Undescended testicles * Unusual chest shape (usually a sunken chest called pectus excavatum) * Webbed and short-appearing neck Treatment - There is no specific treatment. Your doctor will suggest treatment to relieve or manage symptoms.
The two doctors who discovered it was Dr. Prader and Dr. Willi (Ishmael ).Back then doctors were uneducated to what was making Prader-Willi individuals have the obsession to eat. By 1981 a Doctor by the name of David Ledbetter found the cause of the disorder(Prader-Willi Syndrome Association). Since then researchers have done many studies and found abundant amounts of information about the disorder. While being developed a person with PWS, Prader-Willi Syndrome, is missing the 15th chromosome ( Ishmael). A chromosome is a tiny structure that contains the genes we inherit from our parents.
Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the ganglioside lipid. Carriers of Tay-Sachs, people who have one copy of the inactive gene along with one copy of the active gene - are healthy. They do not have Tay-Sachs disease but they
Ninety percent of children with Progeria have a mutation set of genes (Englert .C. 2009). The gene is passed from a family member, sometimes it occurs without cause (Englert .C. 2009). It is very rarely seen in more than one child in a family.
Most infants with cystic fibrosis are born with Meconium Ileus. Most infants without this condition are diagnosed four to six weeks later when parents and doctors notice that the infant coughs frequently, and has not gained weight, even though it is eating enough. To test for cystic fibrosis, doctors often use a basic test called a sweat test. Cystic fibrosis has been affecting humans since the middle ages. Cystic fibrosis was unstudied until the early 1900’s.
Facioscapulohumeral muscular dystrophy causes weakness in the muscles of the face, arms, legs, and shoulders and chest. This form of muscular dystrophy progresses slowly. Symptoms may range from mild to severe. Myotonic muscular dystrophy affects males and females. This is the most common adult form and symptoms may begin any time from birth to childhood.
Developing a Thesis Statement ENG/102 Developing a Thesis Statement Many people are convinced that their child’s autism was caused by immunizations, although there is no real evidence that supports this theory. This belief has led to a dangerous trend that has been driven by false data, and the media. Unfortunately this has led to outbreaks in preventable diseases and poses a danger to others. Refusing to immunize not only causes a health risk for the child that is not vaccinated, but to the rest of the community as well, particularly very young children who have yet to be immunized, and the elderly. Immunizations are not the cause of rising cases of autism, and in fact, not immunizing has caused outbreaks of certain other diseases.
DiGeorge Syndrome: Tbx1 gene and Cardiac Defects Tiffany Smith Genetics Review Paper Excelsior College Abstract DiGeorge syndrome is caused by the “micro” deletion of a section of chromosome 22 that results in the deletion of over 3 million DNA bases that can cause a wide variety of defects (McDonald-McGinn et al., 2001). The deletion of chromosome 22q11.2, also known as DiGeorge syndrome, occurs in about 1 in 4,000 births with over 80% exhibiting congenital heart defects. Gene analysis and genetic testing have identified genes responsible for the associated heart defects in patients with DiGeorge syndrome. Advancements in medical technology have improved surgical techniques to repair cardiac defects caused by the deletion of chromosome 22q11.2. There are not any cures for DiGeorge Syndrome but there are treatments available based on the degree of associated defects.
Treacher Collins is an autosomal dominant disorder requiring only a single copy of the altered allele in each cell to cause the disorder. More than half the cases of Treacher Collins are fresh mutations with no history of the disorder in the family. All cases of Treacher Collins are born with the disorder. An estimated one out of fifty-thousand people in the US are born with Treacher Collins. Similar disorders include Nager Sydrome and Miller Syndrome.
There could be partial webbing of the finger and toes and the eyes could be slanted or wide setted. Many scientists have tried to come up with ways to treat Cri Du chat syndrome, but as of now there is no treatment. The chances of some getting Cri Du Chat syndrome is an estimated 1 in 20,000 to 50,000 newborns. It affects all ethnic backgrounds. Stem Cell research will not help come up with a cure for Cri Du Chat Syndrome.