Jacquelyn Rivera Biology 1st block March 10‚ 2017 Angelman Syndrome Angelman syndrome is a rare genetic disease because of paternal DNA patterns‚ missing chromosomes‚ and gene mutation. It is caused by many symptoms and there are many signs to know if you have Angelman syndrome. There is treatment for AS‚ but there is no cure. Angelman syndrome (AS) is a neurodevelopment disorder can be caused by genetics. AS causes cognitive disability‚ motor dysfunction‚ speech impairment‚ hyperactive‚ short
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Angelman syndrome is a genetic disorder that cause developmental delay and neurological problems. There is sometimes sleep disturbances‚ seizures‚ jerky movements‚ frequent laughter or smiling and usually always happy. The people that have this tend to not use many words‚ or none at all. Most likely they are very hyper and have little balance. An older term that people use to use would be‚ happy puppet syndrome‚ but it is no longer an accepted term. When people have Angelman syndrome‚ they appear
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In this case‚ the patient developed locked in syndrome due the basilar artery thrombosis leading to complete absence of voluntary movement with cognitive function intact. Locked-in syndrome caused basilar artery thrombosis most commonly related to trauma‚ vascular‚ or cardiac malformation‚ as the basilar remain a major supply of posterior circulation; patient with basilar artery thrombosis commonly presented with sudden and dramatic neurological impairment mostly sudden vertigo‚ dysarthria‚ headache
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Ectrodactyly or split-hand syndrome/cleft hand syndrome‚ also known as Lobster-claw syndrome or Split hand/foot malformation (SHFM)‚ came from the Greek word ektroma (abortion) and daktylos (finger). It is a rare inborn genetic disease where the hand is split on where the five fingers should be. Therefore creating a lobster claw-like hand. According to the site‚ SHFM is caused by abnormalities at one of the multiple loci‚ including SHFM1 (SHFM1 at 7q21-q22)‚ SHFM2 (Xq26)‚ SHFM3 (FBXW4/DACTYLIN
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Klinefelter’s Syndrome “Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter’s syndrome was described in 1942‚” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests‚ one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus‚ Klinefelter’s has many symptoms. The treatment is not
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Turner syndrome is named after Henry Turner who‚ in 1938‚ was one of the first doctors to report on the disorder in medical literature. Turner syndrome is one of the most common chromosomal disorders and is one of the most common genetic disorders found in females‚ it is a rare chromosomal disorder that affects only females. This condition occurs in about 1 in 2‚500 female births worldwide‚ but is much more common among pregnancies that do not survive to term‚ like miscarriages and stillbirths.
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Genetically transmitted disease Down syndrome Down syndrome is a genetically transmitted disease‚ the symptoms of this disease can vary depending on the person‚ but children with Down syndrome have unique physical characteristic traits for example: decrease in muscular tone‚ excess skin around the nape‚ widened nose‚ among others. Some mental characteristics are: impulsive behavior‚ short periods of attention and slow learning. Some of the disease’s effects are: pulmonary hypertension
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Azariah Parks 08 February 16 Genetics Noonan Syndrome is a genetic disorder that causes a person not to develop properly in various areas of the body. These defects can occur in different areas‚ such as facial characteristics‚ heart defects‚ short stature‚ development delays and skeletal malformation. Symptoms from those areas can cause a person to have abroad or webbed neck‚ minor eye problems‚ abnormal bleeding‚ an unusual chest shape‚ which is often seen at birth‚ and late puberty particularly
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Premenstrual syndrome and coping skills with it. According American Psychiatric Association (2000) about 80% of women suffer from mild premenstrual symptoms‚ 20- 50% of women report moderate- to- severe premenstrual symptoms‚ and severe symptoms‚ which affect functioning during daily activities‚ occur in 5% of women. As mentioned‚ premenstrual syndrome is widespread between women. Thus‚ it is important to understand the syndrome and its impact on the quality of the life. Peter J. S
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The disease I chose was compartment syndrome because it’s very rare‚ fewer than 20‚000 US cases per year. Compartment syndrome is when a very dangerous and very painful condition cause from pressure builds up from internal bleeding or swelling of the tissues‚ the pressure decreases blood flow‚ depriving muscles and nerves of needed nourishment. The cause of this disease is often causes by injury‚ such as a fracture‚ that causes bleeding in a muscle which then causes increased pressure in the muscle
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