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.
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.
Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale
Elizabeth Barron Winters OA April 17, 2017 Case study 2 Immunological malfunction Question 1 IgA is a monomer in plasma and is a dimer in mucus, tears, intestinal secretions and milk. Its function is to prevent pathogens from penetrating underlying tissues and sticking to epithelia. IgD is a transmembrane protein of B cells and its function is to help the activation of B Cells by antigens. IgE is a transmembrane protein of basophils and mast cells, its function is to simulate the release of histamine and other inflammation mediators. IgG is the circulating antibodies in blood plasma, it is secreted in the secondary immune response.
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
Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.
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
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,
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.
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
Psychologist says that being a victim of this syndrome have various negative impact on the child. As most of parent’s attention goes to oldest and youngest siblings so
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.
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
Several specific learning disabilities occur if someone has classic galactosemia. These disabilities consist of “speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading in school” (http://galactosemia.org/Understanding_Galactosemia.php#Complications). However, not all people who have galactosemia have a learning disability. Additionally, they also have difficulty communicating and comprehending during their daily lives, such as rambling constantly without knowing that the other person doesn’t understand and staring blankly. Females can also have reproductive issues caused by ovarian
Categorized into four major types such as a single gene, multi‑factorial, chromosomal, and mitochondrial disorders. To date, there