What is Turner’s syndrome? • A genetic disorder which only affects and occurs in females • It is a result of only one X chromosome present in the gamete (monosomy X ) • T.S can also occur if one of the sex chromosomes is partly missing or rearranged • This missing chromosome is responsible for the developmental affects • There is an extremely small chance of the fetus actually surviving How is a person diagnosed? • A person can be diagnosed by taking a sample of blood‚ amniotic fluid or
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Art syndrome is a disorder that affects the neurological system. It most commonly affects the boys of families with the inheritance trait. Females are affected as well‚ however‚ not as severe as the males of families. This disorder is significant not only because it is rare but because it is interesting that the disease causes more difficulties and problems in the males than in females. A fact that’s most commonly ask when introduced to this amazing‚ special‚ yet rare neurological disorder. To
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The primary intervention in the management of dysmetabolic syndrome consists of lifestyle modifications such as cessation of smoking‚ healthy eating of calories restricted diet and increase in physical activity (Falentin‚ 2010). In dysmetabolic syndrome‚ the main emphasis is on reducing the individual risk factors especially in patients identified as high risk of cardiovascular disease and T2DM. Riediger and Clara (2011)‚ state the importance of doctors using a screening tool for other risk factors
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Cushing’s Syndrome Cushing’s Syndrome is a hormone disorder caused by the body tissues being exposed to high levels of the hormone cortisol for a long period of time. The disease is commonly caused by taking corticosteroid medicine in high doses over an extended period of time. The condition can also be caused by the body’s excess production of cortisol due to an overactive adrenal gland. It is a rare disease that mostly affects adults between the ages of 20 to 50. Females are more likely
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According to the national heart‚lung‚and blood institute‚ in 2003‚ approximately 40‚000 infants and 150‚000 adults were reported with RDS meaning about one person out of 6‚800 has RDS. It is very important to be careful with this syndrome because if an infant or breathing machine tried to apply some pressure to the lungs there is a high chance of it to rupture causing air to leak making the lung collapse sinking in even farther which turns it into a more severe case‚ usually this
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Down’s Syndrome Down’s syndrome is a genetic condition involving an extra chromosome‚ this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder‚ Down’s strikes 1 out of 600 babies. In 95 percent of all cases‚ the disorder originates with the egg‚ not the sperm‚ and the only known risk factor is advanced maternal age-at age 35‚ a woman has 1 chance in 117 of having a baby with
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is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
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Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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Inside Rett Syndrome Christina Wenn April 10‚ 2013 Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood‚ and one of the twins‚ Morgan‚ was diagnosed with Rett syndrome as an infant. I started babysitting the twins‚ Morgan and Ryan‚ when I was a freshman in high school‚ but I mainly took care of Morgan. She would giggle and smile‚ but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper
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22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
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