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    Introduction

    Hello! We are the Sixth Group of Amos.
    We hope you've liked the website so far.
    Mayto and Mayo are on lunch break right now, so we will be carrying over!
    This page is dedicated to commonly known genetic disorders caused by cell division errors in meiosis.


    Why is this important to me?

    Simply put, genetics is important in starting and building a family, as well as being aware of the present risks and issues brought out by genetic disorders.
    As an example, some genetic conditions are hereditary. To be aware of this is to be prepared of possible outcomes and its effects on reproduction and even your own well-being.




    Common genetic disorders

    TRISOMY 13: Patau Syndrome

    Trisomy 13, or Patau syndrome, is a genetic disorder caused by the presence of an extra 13th chromosome. This is characterized by cerebral defects, apparent anophthalmia, cleft palate, harelip, simian creases, trigger thumbs, polydactyly, and capillary hemangioma. This condition leads to severe intellectual disability and physical abnormalities, often resulting in a short life span.
    It can be devastating for families, as they may face emotional distress and challenges in caregiving. Daily life is often filled with medical interventions and a need for constant support.
    The Patau syndrome was first described by Dr. Klaus Patau in 1960. The cause is usually random errors during cell division, an additional copy of all or part of chromosomes, which increase with maternal age.


    TRISOMY 21: Down Syndrome

    Trisomy 21, or Down syndrome, is a genetic condition caused by the presence of an extra chromosome 21.
    People with Trisomy 21 may face challenges such as intellectual disabilities, but they often exhibit strengths in social skills and emotional connections. Families may experience stress but can also develop strong bonds and resilience.
    The syndrome was first described in 1866 by John Langdon Down, but the chromosomal basis was identified in 1959 by Jérôme Lejeune. Trisomy 21 is primarily caused by nondisjunction, which is the failure of chromosome pairs to separate properly during cell division. This results in an egg or sperm with an extra chromosome 21, leading to three copies of the chromosome in the resulting embryo. Factors such as advanced maternal age can increase the likelihood of this occurrence.


    45, X or 40, X0: Turner Syndrome

    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, was first described by Henri Turner, an Oklahoma physician in 1938.
    Individuals with Turner syndrome may be experiencing issues including short height, failure of the ovaries to develop, and heart defects. It occurs when a part or all of an X chromosome is missing from most or all of the cells in a girl's body.


    47, XXY: Klinefelter Syndrome

    Klinefelter syndrome can cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The syndrome may also adversely affect testicular growth, resulting in smaller than normal testicles, leading to a lower production of testosterone.
    It was first described by Dr. Harry Klinefelter in 1942, and it results from a random error during cell division, often leading to variations in physical and cognitive development. This occurs when the additional X chromosome occurs as a result of either the mother's egg or father's sperm having the extra X chromosome.


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