Symptoms and Diagnosis of Ullrich-Turner Syndrome

594 Words2 Pages
bulb-icon

Recommended: turner's syndrome case study

Turner’s syndrome (TS) also known as Ullrich- Turner syndrome, is a genetic chromosomal disorder that affects roughly about 1 in 2,000 live born female infants. This disorder is caused by the absence genetic material from one of the sex chromosomes during fetal development, other developmental problems occurs after birth. Sex chromosomes are: X and Y, which are responsible for developing either (XY) male or (XX) female. A male fetus inherits the X chromosome from his mother and the Y chromosome from the father. While female fetuses inherit one X chromosome from each parent. If a female has Turner syndrome, one copy of the X chromosome is partially missing, altered or completely missing. The following genetic alterations forms of Turner syndrome: Monosomy, the X chromosome is completely absent, this happens when there’s an error in the mother’s egg or father’s sperm, this occurs randomly. The result is every cell in the fetus body being only X chromosomes. Mosaicism can happen in cell division during early fetal development stages. When this happen cells in the fetus, may have two com...

Show More
Related

  • Case Study Of Eisenmenger Syndrome

    1207 Words  | 3 Pages

    First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).

    Read More

  • Genetic Disorders in Twins

    2026 Words  | 5 Pages

    Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.

    Read More

  • Eisenmenger Syndrome: A Comprehensive Overview

    991 Words  | 2 Pages

    Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various

    Read More

  • The Genetic Conditions of the Waardenburg Syndrome

    855 Words  | 2 Pages

    Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

    Read More

  • Deletion

    1025 Words  | 3 Pages

    The prevalence of this syndrome is estimated to be 1 in 50,000 births [7] with a female to male ratio of 2:1[8].

    Read More

  • Symptoms of Adrenoleukodystrophy

    2029 Words  | 5 Pages

    Many people have never heard of Adrenoleukodystrophy it is a disease that affects every 1 in 20,000 people from all races (Moser, AB HW, and KK Frayer). It is a disease that if not treated properly can possibly kill the child due to difficulties. Adrenoleukodystrophy is passes down from parents to their children as an X-linked trait. Since ALD is X-linked trait it mostly affects male, women can also carry the trait but it will remain dormant. If a woman has ALD she will only display a milder form of the disease unlike the male.

    Read More

  • Marfan Syndrome

    1537 Words  | 4 Pages

    This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...

    Read More

  • Essay On Angelman Syndrome

    1597 Words  | 4 Pages

    The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...

    Read More

  • Meiosis Essay

    1143 Words  | 3 Pages

    While pregnancies with a trisomy (a baby which has receive an extra chromosome) or a monosomy (have a missing chromosome) may go to full-term and result in the birth of a child with health problems, it is also possible that the pregnancy may miscarry, or that the baby is stillborn, because of the chromosome abnormality. In studies of first trimester miscarriages, about 60 percent (or more) are chromosomally abnormal. In studies of babies who are stillborn, 5 to 10 percent have a chromosome

    Read More

  • Overview of Down Syndrome

    955 Words  | 2 Pages

    The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.

    Read More

  • Down Syndrome Essay

    822 Words  | 2 Pages

    Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.

    Read More

  • Duchenne Muscular Dystrophy

    1095 Words  | 3 Pages

    Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)

    Read More

  • Turner syndrome

    1109 Words  | 3 Pages

    He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged.

    Read More

  • Down Syndrome

    691 Words  | 2 Pages

    Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in some of the cells. In Mosaic some cells have a normal number of chromosomes and some have an extra chromosome 21. Mosaic Trisomy 21 occurs in 2-3% of patients with Down syndrome. Mosaic Trisomy produces a wide range of possibility of a person having physical problems.

    Read More

  • genetic mutations

    1467 Words  | 3 Pages

    Turner Syndrome Society of the United States (2011). http://turnersyndrome.org Retrieved November 30, 2013 from http://turnersyndrome.org/learn-about-ts/what-ts

    Read More

More about Symptoms and Diagnosis of Ullrich-Turner Syndrome

Open Document