Aneuploidy

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  • Klinefelter Syndrome Advantages And Disadvantages

    2593 Words  | 11 Pages

    deficits are observed primarily in cognitive and verbal abilities. (64) Compared with their classmates certain abnormal physical and psychological characteristics of the patients become obvious and they may become socially alienated. Higher-grade aneuploidy of the sex-chromosomes (48,XXXY, 48,XXYY and 49,XXXXY) is associated with mild mental retardation. In comparison clinical symptoms is very few in Klinefelter patients with chromosome mosaics (47,XXY/46,XY).

  • A Research Study On Klinefelter Syndrome

    1187 Words  | 5 Pages

    Thomas is a 13-year old Caucasian male who presents to the pediatric department with his mom to discuss behavioral concerns. Thomas’s mother reports that his teachers have become concerned about his grades and he suddenly seems uninterested in activities he used to enjoy. After learning about Thomas’s history, seeing the physical assessment documentation and the laboratory data, I conclude that Thomas has Klinefelter Syndrome. The pathophysiology topics to be covered concerning Klinefelter Syndrome

  • Approximately three to four percent of babies born every year are born with some kind of genetic

    700 Words  | 3 Pages

    Approximately three to four percent of babies born every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome

  • College Essay On Down Syndrome

    1095 Words  | 5 Pages

    Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome affects people of all ages, race, and economic status. It causes an increased risk of health problems and developmental issues. Researchers have found that centuries ago there were people who seemed to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with Down syndrome

  • Assignment On Chromosomal Abberations And Down Syndrome

    3568 Words  | 15 Pages

    which this assignment would not be possible. Shruti Dhameja CONTENTS SR. NO. TOPIC 1 INTRODUCTION 2 CHROMOSOMAL ABBERATIONS 3 STRUCTURAL ABBERATIONS ⦁ DELETION ⦁ DUPLICATION ⦁ TRANSLOCATION ⦁ INVERSION 4 NUMERICAL ABBERATIONS ⦁ EUPLOIDY ⦁ ANEUPLOIDY 5 DOWN SYNDROME ⦁ DEFINITION ⦁ DIAGNOSIS ⦁ SYMPTOMS Introduction Chromosomal aberrations

  • The Earliest Depictions Of A Person With Down Syndrome

    1037 Words  | 5 Pages

    The earliest depiction of a person with Down syndrome was dated in 1515 in a Flemish painting. Doctor John Langdon Down described Down syndrome as a disorder in 1866, however he misunderstood on how the syndrome first came about. The cause to Down syndrome was discovered recently in 1959 as being the common cause of cognitive impairments. All individuals who contain down syndrome show symptoms of mild to moderate learning disability, distinctive facial features, and hypotonic in early infancy. Down

  • How Individuals with Down Syndrome can Prosper in Life Essay

    1413 Words  | 6 Pages

    How Individuals with Down Syndrome can Prosper in Life Roger is a handsome blonde, blue-eyed boy but one can tell he is different from most other children.  His physical features are somewhat strange.  Roger's face is broader and his nasal bridge flatter than usual.  And his eyes, they appear to slant upward and have folds at the inner corners.  His mouth is small and the roof of his mouth is very narrow.  Not to mention his small ears which fold over a bit at the top.  Touching his hands they

  • Congenital Condition Of Congenital Heart Defects

    1188 Words  | 5 Pages

    INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi

  • Characteristics Of A Chromosomal Disorder Essay

    955 Words  | 4 Pages

    A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When

  • History of the Patau Syndrome

    1850 Words  | 7 Pages

    Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or

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