“Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.” (medterms.com) Genetic counselors are the professional that sit down with the parents of an affected child and go over step-by step the process to how they might have gotten the disorder and how to cope and prepare for the disorder. Personally, I believe the technology to help people find out if they are carrying or have a genetic disorder is absolutely amazing. The speaker we had in class informed us on how the system works and what a Genetic Counselor has to deal with in terms of patient care and follow up. There is a big responsibility as a counselor to make sure the child is well taken care of if he or she is diagnosed with a serious disorder such as sickle cell anemia, which she told us that it is one of the most common disorders they deal with.
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.
Color Blindness by Inheritance RED GREEN COLOR BLINDNESS Red Green Color blindness is predominantly found only in men. The gene that leads to red green color blindness is found in the X Chromosome. Males only have one X chromosome whereas females have 2; typically in females the stronger chromosome takes precedence so they retain correct vision. The son of a woman carrying a faulty gene has a 50% chance of inheriting the faulty X chromosome and as a result – suffering from color blindness. The daughter of the same woman is unlikely to be color blind unless her father is color blind; however she retains a 50% chance of being a carrier for the defective gene.
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.
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
Even though there are many ethical beliefs that have always been against this policy, the rule has been estimated to have reduced population growth in the country of 1.3 billion by as much as 300 million people over its first twenty years. This rule has caused a disregard for female infants. Abortion, neglect, abandonment, and even infanticide have been known to occur to female infants, due to the policy. As family’s were restricted to only one child, most of them wanted boys, as it was considered in their culture that boys would look after their parents and carry the family name. The result of such drastic family planning has resulted in the ratio of 114 males for every 100 females among babies from birth through to children at the age of four years.
Out of all genetic disorders, Spina Bifida is probably the most common in the United States(“How Often”). Approximately seven in every ten thousand babies are born with the condition(“How Often”). Spina Bifida is a neural tube defect which originates before birth causing disabilities in infants. According to Basile’s article in The Gale Encyclopedia of Genetic Disorders, there are three types of Spina Bifida; Occulta, Meningocele, and Myelomeningocele. Occulta is the most mild form and is usually only diagnosed if there is another problem that requires an x-ray, computerized tomography, CAT Scan, or magnetic resonance imaging, MRI (Watson).
Because the hypothalamus is not doing its responsibility the individual will never have the feeling of being full. There are three forms of Prader-Willi Syndrome. Paternal deletion is the most common form. This involves 70% of PWS cases. In this form the normal inherited 15th chromosome from the father is missing and is considered deleted (Prader-Willi Syndrome Association).
Fetus is like a ten-month parasitic worm, they need others to live in the ten month. Everyone has the rights to make parasitic worm not rely on the host. People do have the right to life, but they cannot live on others. In Thomson’s examples, there still are some differences between fetus and Thomson’s examples. If Thomson can
When diagnosed with Cri Du Chat Syndrome, the child is missing some of the genes on the chromosome number 5 meaning that child is born with delayed development and they also have an intellectual disability. In 80 percent of the cases, the chromosome 5 carrying the abnormality comes from the father's sperm rather than the mother's egg. The reason is unknown and there is no cure, but there are treatments that help the child live their lives as normal as possible. The cause of why there is a defect on chromosome 5 is unknown. This abnormality in most cases happens with no family history of Cri Du Chat Syndrome.