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Turner Syndrome

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Turner Syndrome Turner Syndrome also known as Ullrich- Turner Syndrome or Gonadal dysgenesis, is a chromosomal disease that affects only females wherein one of the two X-chromosomes is defective or completely absent. . The name “Turner Syndrome” comes from an endocrinologist, Dr. Henry Turner, who first described the collection of findings in 1938 (Chen et al., 2006). The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire (Chen et al., 2006). It was found in a 14-year-old girl with signs of Turner syndrome. Having one X-chromosome was identified soon after this. The prevalence of Turner syndrome is widely reported as being approximately one per 2,000 live female births, …show more content…

Turner syndrome may be suspected through ultrasound test. It can be confirmed by prenatal testing with chronic villous sampling or amniocentesis in order to obtain cells from the unborn baby for chromosomal analysis. The diagnosis is then confirmed by a blood test called a karyotype. A karyotype1 is used to analyze the chromosomal composition of the female. There has been a recent study that’s has demonstrated an accurate test for early diagnosis of Turner …show more content…

Ullrich- Turner Syndrome can affect proper development of several body systems. There are a number of expected complications that will occur including heart problems, cardiovascular disease, hearing loss, kidney problems, immune disorders, dental problems, visual impairments, skeletal problems, pregnancy issues and thyroid issues. Defects in the main blood vessel leading out of the heart (aorta) increase the risk of a tear in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart and the aorta may also increase the risk of a narrowing of the valve that cause heart problems. Cardiovascular disease is due to the increase of developing diseases of the heart and blood vessels. Hearing loss is due to the gradual loss of nerve function. One-third of girls with Turner syndrome can increase the chance in urinary tract infections and hypertension dealing with kidney problems. Immune disorders result in low production of hormones important for controlling heart rate, growth and metabolism. Girls with TS are more than likely to suffer from crowded and poor teeth because of the shape of the mouth and palate. Strabismus, eyes to not work parallel and appear to be looking in different directions, are more common among young girls with TS. Problems with growth can increase abnormal curvature of the spine known as scoliosis, and brittle bones known as osteoporosis. Women with TS who become pregnant develop gestational diabetes and aortic dissection.

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Of 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.

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a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another

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Sickle Cell Anemia a Negative and Positive Taylor Martin University of Missouri-Columbia September 23, 2015 Sickle Cell Anemia a Negative and Positive General Purpose: To inform my audience about Sickle Cell Anemia. Specific Purpose: As a result of my speech, the audience will be informed about Sickle Cell Anemia and how it can affect people. Central Idea: Sickle Cell Anemia has some negatives but, it can also be a positive in certain areas with the malaria virus. Introduction In America 70,000 to with sickle cell trait Sickle cell disease is an inherited disorder that affects red blood cells.

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New born babies with patau syndrome tend to have a cleft lip, or omphalitis which is an infection in the umbilical stump. Patau syndrome is the least common and worst Autosomal Trisomies, regular span of life is 3 days or less. Patau syndrome was first discovered in 1960.  Patau syndrome is caused by an extra copy of chromosome 13. Every mother diagnosed with a baby affected by Patau syndrome is offered help with a doctor who is skilled in that disease.

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In Summer 2003 a small family living in the United Kingdom gave birth to a beautiful little boy named Jamie Whitaker, Jamie was born to help save his four year old brother Charlie’s life. Charlie suffered from Diamond Blackfan Anemia (DBA) a disease that affects 700 people a year and is treated with excruciating painful daily injections and many days spent in the hospital. Jamie was one of the very first babies born through, Pre-implantation Genetic Diagnosis with Human Leukocyte Antigen he is known as a savior sibling. Pre-implantation Genetic Diagnosis (PGD) with Human Leukocyte Antigen (HLA) is when; parents use in-vitro fertilization (IVF) to chose embryos that do not have any genetic defects. This is also used with a screening matching

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Super male syndrome Nick Robbertse 47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cell. Although males with this XYY syndrome may be taller than the average man, Most males with 47, XYY syndrome have normal sexual development and are allegeable to father children. XYY syndrome has increased risk of learning disabilities and delayed development of speech and other language skills. Delayed development of motor skills such as sitting and walking and also weak muscle tone, hand tremors or other involuntary movements, and behavioural and emotional difficulties are also potential.

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It would be difficult for people with Kanner’s to raise a child with all of these physical and mental disabilities. Rett Syndrome is also one of the types of autism, this disability is only prone in females for a reason that is still unknown. Other disabilities are attributed to males 75% of the time. The disability makes it so these women are hardly able to move and speak; this autism type has been classified as a genetic defect. This would definitely make it difficult to raise a child considering the fact that people with Rett’s syndrome are unable to move or

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I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.

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Almost all of the information used was taken from books, master’s theses, or government organizations. After extensive research, the following factors were identified: neurodevelopmental complications, genetic influences,

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It provides a clear description of what CHS is and how it affects someone with the syndrome. Brewerton and Anderson take the reader through the full process of someone with CHS. They start by presenting the reported symptoms, the diagnosis, and the treatments for the syndrome. The authors also discuss the pathophysiology and the different theories of CHS. The purpose of this case report is to provide the facts on CHS and what causes the syndrome.

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According to Campbell et al. (2008), symptoms of Down syndrome include distinctive facial appearance, short stature, heart defects, respiratory infections and mental retardation. Unlike trisomy which has an additional chromosome, monosomy lacks a chromosome, having 45, X set of chromosome complement leads to Turner’s syndrome with extent phenotypic expressions such as shorter than average, webbed neck, broad chest, swelling of hands and feet, skeletal abnormalities, and they are also infertile due to the absence of ovarian function (Shiel, 2010). Other syndrome include Klinefelter syndrome caused by 47, XXY karyotype which is commonly referred to as male hypogonadism. An extra X chromosome in their karyotype leads to phenotypic expressions like less muscular body, less facial and body hair, broader hips, larger breasts, weaker bones, and lower energy level than normal boys (Shiel, 2010).

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It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially

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Categorized into four major types such as a single gene, multi‑factorial, chromosomal, and mitochondrial disorders. To date, there

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Other medical conditions that may happen more frequently in kids with DS include thyroid problems, stomach and intestinal problems, seizure disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should be evaluated by a doctor before participating in physical activities. Scientists found out many of these conditions are treatable. Today, many kids with Down syndrome go to school and enjoy many of the same activities as other kids their age. A few go on to college.

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