Turner Syndrome: Turner syndrome is when an abnormal egg and a normal sperm causing one chromosome to only one sex cell(X). The type of genetic disorder is nondisjunction, which is a pair of sex chromosome fails to seperate during the forming of an egg or sperm cell. People with the genetic disorder tends to turn out as girls. The symptons for this disorder are mostly their height shorter than normal, fails to start puberty at the correct time, stocky appearance, arms turned slightly at the elbow, a receding lower jaw, short webbed neck, and low hairline at the back of the neck. Medical symptons include swelling of hands and feet, heart or kidney defects, high blood pressure, and unable to bear children. Horomone replacement therapy is the best treatment for the disorder. Patients are treated with growth horomones to gain normal height and androgens(male horomones which females also make in small quantities) to increase height, normal hair, and muscle growth. Some may take female horomone estrogen to promote normal sexual growth.
Williams Syndrome: A rare genetic disorder that is caused by missing genetic material from chromosome 7, including genetic elastin. The gene's protein gives blood vessels the strectiness and strength required to last. The missing of chromosome 7 is caused by a break in the DNA molecule that makes up a chromosome. The chromosome breaks when the sperm or egg cell is developing, but the break is very rare to happen. Usually people with the disorder have disorders of circulatory system and heart defects. Common symptons are mental retardation, heart defects, unusual facial features(small upturned nose, wide mouth, full lips, small chin, widely space teeth). Others are low birth weight, failure to gain weight properly, kidney abnormalities and low muscle tone. People also tend to show characteristics behaviors like hypersensitivity to loud noises and an overly outgoing personality. There is no cure or treatment for the genetic disorder. Only patients can be monitored and treated for symptons throughout their lives. Anyone can get the disorder.
Pachyorychia Congenita(PC): A rare gentic disorder that affects the skin, nails and mouth. It caused by the mutation in any of the four keratin proteins(proteins that form tough fibers and strengthen skin, also things that grow out of skin). Mutations in only keratin 6a, 6b, 16, and 17 can cause PC. It doesn't affect lifespan but it can cause constant pain. The type of genetic disorder is autosomal dominant, meaning if a female has the disorder it's fifty percent chance that their child could have it. Thick nails, painful blisters and calluses on the soles of the feet and hands, white growth on tongue, and a variety of cysts are the usual symptons.There's no cure or treatment, but patients can manage their own symptoms. Trimming and filing nails can prevent infection future infections, soaking and cleansing of calluses and blisters, keeping skin tender and moist are things to do when you have the disorder.
Coi-Du-Chat Syndrome: The name of the syndrome is french for '' cry of the cat'' which came from the unique cry of the child when it's born. The cry becomes less noticable when the child is older. The type of genetic disorder is deletion, because of the deletion of the short arm of choromosome 5 and more parts of genes from that deletion. One known gene deleted is TERT( telomarse reverse transcriptase), which is important to help keep the tips of chromosomes in place. Deletion occurs when the sperm or egg cell is developing. When the fertilization starts the child will develop the syndrome. Inheritance doesn't apply if the parent doesn't have the syndrome. First symptons are small at birth, respiratory problems, and undeveloped larynx. Physical features are small head, unusually round face, small chin, wide set eyes, folds of skin over face, small chin, wide set eyes, folds of skin over their eyes, and small bridge nose. Internal symptons are heart defects, muscular or skeletal problmes, hearing or sight problmes, and poor muscle tone. Walking and talking problems, behavior problems, and mental retardation are also included. No real treatment is created but therapy will help improve theier language skills, moto skills, and their development.
Breast and ovarian cancer: Breast and ovarian cancer is basically cancer in the breast or ovaries. What causes it is once mechanisms that control cell growth stop working, the cells will divide contionously out of control which will form tumors. If the cancer develops in the breast or ovarian tissue then people will have this disorder. The type of genetic disorder is autosomal dominance. Inherited mutation from choromosome 17 or 13 can most likely cause their children to have it(it's possible to not get it though). Symptons for ovarian cancer are abdominal pain, bloating, pain with intercourse, naseau, indigestion, gas, urinary frequency, unusual fatigue, unexplained weight loss or gain, shortness of breath and many more. The first symptom is a painless lump, others include a thickening in breast or armpit, a change in the size or shape of the breast,and changes in the skin around the breast area. Surgery on ovarian and breast cancer then chemotherapy are the two types of treatment used.
http://www.breastcancer.org/risk/ovarian_cancer/index.jsp
http://health.yahoo.com/breastcancer-symptoms/breast-cancer-symptoms/healthwise--tv3621.html
http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.webmd.com/ovarian-cancer/guide/ovarian-cancer-treatment-overview
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