Aneuploidy

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    Essay On Turner's Syndrome

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    mosaicism, which is a mixture of at least two genetically different cell types. Mosaicism in Turner’s syndrome include 45,X/46,XX and 45,X/46,XY[5]. Most cases of turner’s syndrome whether nondisjunction or mosaicism are not inherited. They occur as random events during cell division as the fetus is developing. Monosomy X occurs at random during the formation of gametes in either parent. Nondisjunction occurs during cell division and it results in aneuploidy. Nondisjunction can occur in either meiosis I or meiosis II. If it occurs in meiosis II the chances of a zygote having aneuploidy is less because it results in 2 normal gametes, 1 trisomic gamete, and 1 monomeric gamete. If the mistake occurs in meiosis I it will result in 2 isomeric gametes and 2 monomeric gametes. Therefore, nondisjunction in meiosis I is more prone to having daughter cells with aneuploidy in comparison to nondisjunction in meiosis II. Some studies have shown that mothers who get pregnant at an older age have a higher chance of having children with aneuploidy, but this area needs more research. Turner’s syndrome is seen across all ethnicities and countries with about equal proportions. Though there is no cure for Turner’s syndrome, treatment of symptoms with the use of hormone therapy is available[5]. Biochemical/Molecular Genetic Info/Genotype/Phenotype/Expressivity/Pleiotropy Diagnosis of Turner’s syndrome prenatally can be done with the use of a sonogram and checking maternal serum beta human…

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    syndrome in honor of his discovery. Nearly a century later, geneticists Jerome Lejeune and Patricia Jacobs reported the chromosomal abnormality for the first time in humans to be secondary to a trisomy of chromosome 21 [1]. The reason that Down syndrome is still so common today is because there has been an increase in older women having babies. Maternal age is an important factor that plays into the possibility of a child being born with Down syndrome. More than half of the pregnancies with Down…

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    R 14 Research Paper

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    Disability Paper RING 14 CHROMOSOME SYNDROMES 14 What is RING14 syndrome? RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the…

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    Klinefelter Syndrome is a genetic disorder of males caused by the attainment of an extra X chromosome at conception. It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had breast enlargement, a lack of facial and body hair, smaller than average testicles and an inability to produce sperm. There are medical researchers that realized the role of…

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    There are billions of people in the world. They all start as small infants, then grow up. But not everyone turns out the same as the next. Some turn out to be truly evil beings. The truth is, many humans have done acts of evil, but no one is born evil. They are born like a blank slate, bound to be shaped by society. People believe others are either born to be corrupted or born to be kind. In this essay, to prove that people are born as a blank state and not either one of those we will show…

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    The world is a very strange place, filled with many strange disorders and diseases, but the strangest of them all is Lesch-Nyhan Syndrome. This rare genetic disorder mostly affects males and is characterized by a variety of symptoms, which include “self-mutilation, hyperuricemia, choreoathetosis, and mental retardation.” (Wilson and Roy 1) The first documented case of Lesch-Nyhan Syndrome was in 1962, when a mother brought in her son (who was diagnosed with cerebral palsy), because he was…

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    Turner Syndrome Diary

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    Natalie Recker Mrs. Smith Biology- period 4 11 March 2017 Journal Entry- Day in the Life It is 9:30 P.M., and today has been a rough day. The first thought I had this morning was, ‘Will I have a good day or a bad day?’ Right after thinking that, I thought, ‘How will my Turner Syndrome diagnosis affect today?’ This, however, isn’t the first time thinking these thoughts. In fact, I ask myself these questions every day when I wake up. Every day, I struggle knowing I have a genetic disorder;…

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    Cri du chat syndrome, also referred to as cat cry syndrome and 5p deletion, is a chromosomal disorder resulting from the deletion of the short arm, known as the p arm on chromosome 5 (1). This disease was first described in 1963 by a French geneticist, Jerome Lejeune as a hereditary congenital syndrome (1). Today, it is known as one of most frequent autosomal deletion syndromes that results from loss of the distal portion of chromosome 5 affecting the telomerase reverse transcriptase (TERT)…

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    Background: What is Down Syndrome? Down Syndrome is a chromosomal disorder caused by an error in cell division that results in an extra twenty-first chromosome, that causes birth defects of developmental and intellectual delays. The human body is composed of trillions of cells and within the nucleus of each cell are structures called chromosomes (Parks, 2009). About eight million babies are diagnosed with Down Syndrome in the United States with approximately twenty thousand in Western Europe…

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    Quentin’s physician believes had has Klinefelter syndrome due to his enlarge breast tissue, long limbs, and abnormally small testes. Based on my findings, “Klinefleter syndrome is a chromosomal condition that affects male physical and cognitive development”(Genetics Home, 2015). This genetic disorder is a result of having 2 X and a Y-chromosomes mixed together. Individuals living with Klinefeter syndrome typically have small testes that do not produce as much testosterone as usual”(Genetic Home,…

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