Turner Syndrome Assignment
Turner Syndrome Assignment 1. The name of the most common abnormal chromosome disorder in female is Turner Syndrome. 2. This disease only occurs in females. It affects 1 in 2000- 2500 females, in the world. Usually frequently occurs in miscarriages. The syndrome does not affect any particular race, because of the syndrome is caused by random error in development. The syndrome comes on before birth. 3. Symptoms in Tuner syndrome can be seen even before birth. It can be seen through ultrasound screenings Turner syndrome fetuses often have fluid in the back of the neck, heart problems, and irregular kidneys. At infancy, common symptoms include puffy legs and hands, webbed neck, low ears and hairline. The most prevalent symptom is a short stature
Michele Turner Observation
329 Words | 2 PagesOn September 6, 2015 at approximately 8:21pm I, Deputy Tucker George, checked en route to the Shell Gas Station in Hawkins, Texas 75765, Located at 102 East front street in reference to an assault call. Upon arrival I located the complainant Michele Turner inside the Shell station sitting at a small table on the North wall of the building just inside the door. Michele Turner appeared to be intoxicated upon my arrival and displayed multiple signs of intoxication throughout the process of conducting my investigation. Michele Turner was unable to provide detailed information in regards to her assault, but did state the house at which she had been and was assaulted was a known dope house. I later located two small clear plastic bags in the
Angie De Moss Case
322 Words | 2 PagesShe had no sign of muscle tone or reflexes and her skin tone was flush. This was most likely due to the abnormal positioning at birth. Fortunately, this only had some short-term scares and did not last long after
Mrs Pat Turner Observation
182 Words | 1 PagesThis information that I am sharing with you is not to put on your shoulders another heavy burden. Is just to see if you know any church or person that can assess the following situation. This lady from Orange, Mrs Pat Turner, has a big Oak tree partially falling down in her property due to was hit by a lighting and she is afraid it can fall on her house or their neighbor. This happened in May and when she asked me for help, I went to the 1st Baptist Church of Orange in where the headquarters of the Southern Baptist Men were. Last week I encountered the lady and she told me that the tree still there and the person from the Baptist men that went to her house, never returned.
Duchenne Muscular Dystrophy Research Paper
927 Words | 4 PagesWomen have two X-chromosomes so that is why they will not have the disease. They have one defected gene and one normal. Their normal
Noonan Syndrome Research Paper
733 Words | 3 PagesOf course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
Constitutional Growth Delay Essay
386 Words | 2 PagesIt often occurs in children who have one or both parents who were also slow to develop. SYMPTOMS Children with CGD tend to be a bit short in early childhood, but they grow at a normal rate. They do not have the rapid growth spurt of adolescence when other children their age do. They continue to grow but at a slow rate. They also do not show signs of puberty until later.
Cri-Du-Chat Syndrome
1062 Words | 5 PagesCri-Du-Chat implies "Cry of the cat" in French. It gets its name from its most trademark highlight in infants were they contain a to a great degree specific deafening, weak, mewing cat like cry in the midst of right on time stages brought on by a sporadic change of the larynx that is regularly characteristic for the issue. This issue has various names to it as the Chromosome 5p-issue, Deletion 5p-issue, 5p short issue, Cat cry issue, and Monosomy 5p however most usually known as the Cri-Du-Chat Syndrome. Frequencies of this issue vary between 1 in each 20,000 - 50,000 live births general and as showed by the 5p less Society, around 50 to 60 adolescents are considered with cri du talk in the United States each year. Dr. Jerome Lejeune in 1963 depicted the issue as a hereditary inalienable issue associated with a midway cancelation of the short arm, or p area in chromosome 5 yet in %90 of patients the deletion is sporadic which infers it could happen subjectively and for it being basically natural is just not the circumstance.
Familial Dysautonomia Research Paper
879 Words | 4 PagesThe symptoms of familial dysautonomia may be present at birth.4,5 However, in general, the symptoms are not typically apparent until infancy. The earliest symptoms are difficulties in feeding and swallowing, which may result in aspiration pneumonia (infection that forms the presence
Osteogenesis Imperfecta Research Paper
409 Words | 2 PagesOsteogenesis Imperfecta is a disorder of the bones which causes the bones to be very weak and fragile. The bones are weak due to poor quality or absence of collagen produced by the body. Usually this disease is inherited by the parents due to a genetic mutation. Osteogenesis imperfecta is usually present at birth.
Nt1310 Unit 1 Writing Assignment
852 Words | 4 PagesIn 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
Essay On Klinefelter Syndrome
1013 Words | 5 PagesThe frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended
Sanfilippo Syndrome Research Paper
870 Words | 4 PagesIt is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Down Syndrome Informative Speech Outline
728 Words | 3 PagesDown syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.
Myasthenia Gravis Research Paper
1075 Words | 5 PagesThe infant may develop temporary muscle weakness and associated findings (i.e., transient neonatal myasthenia gravis). The passage of anti-acetylcholine receptor antibodies through the placenta to the unborn child during pregnancy may cause this condition to the infant. Some of the myasthenia gravis is inherited as an autosomal recessive, or more rarely, an autosomal dominant condition is described as congenital myasthenia gravis. The individual that inherits two copies of an abnormal gen for the same trait from each parent, the individual will have recessive genetic disorders. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.
Thesis On Down Syndrome
905 Words | 4 PagesThey can have upward slant to the eyes, small ears, and a bulge tongue (Susan Skallerup).Low muscle tone is also component of children with DS, and babies in particular may seem especially "flabby." Sometimes this can and often does improve over time; most children with DS occasionally reach developmental milestones like sitting up, crawling, and walking. Their development is usually later than other kids (Kathryn L,
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