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    Edwards Syndrome Notes

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    Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It leads to severe developmental delays and most infants with trisomy 18 die in the first month of life. Some characteristics include slow growth, small size, abnormal head and facial features, and clenched fists. The condition is not inherited but occurs randomly during cell division as the result of a failure of chromosomes to separate properly (nondisjunction). Chromosome 18 contains around 200 genes and makes up about 2.5% of human DNA, though the specific functions of most genes on this chromosome are unknown. The risk of having a child with trisomy 18 increases with the age of the mother.

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    Edwards Syndrome Notes

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    api-386407615
    141 views2 pages
    Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It leads to severe developmental delays and most infants with trisomy 18 die in the first month of life. Some characteristics include slow growth, small size, abnormal head and facial features, and clenched fists. The condition is not inherited but occurs randomly during cell division as the result of a failure of chromosomes to separate properly (nondisjunction). Chromosome 18 contains around 200 genes and makes up about 2.5% of human DNA, though the specific functions of most genes on this chromosome are unknown. The risk of having a child with trisomy 18 increases with the age of the mother.

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    Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It leads to severe developmental delays and most infants with trisomy 18 die in the first month of life. Some characteristics include slow growth, small size, abnormal head and facial features, and clenched fists. The condition is not inherited but occurs randomly during cell division as the result of a failure of chromosomes to separate properly (nondisjunction). Chromosome 18 contains around 200 genes and makes up about 2.5% of human DNA, though the specific functions of most genes on this chromosome are unknown. The risk of having a child with trisomy 18 increases with the age of the mother.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    141 views2 pages

    Edwards Syndrome Notes

    Uploaded by

    api-386407615
    Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It leads to severe developmental delays and most infants with trisomy 18 die in the first month of life. Some characteristics include slow growth, small size, abnormal head and facial features, and clenched fists. The condition is not inherited but occurs randomly during cell division as the result of a failure of chromosomes to separate properly (nondisjunction). Chromosome 18 contains around 200 genes and makes up about 2.5% of human DNA, though the specific functions of most genes on this chromosome are unknown. The risk of having a child with trisomy 18 increases with the age of the mother.

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    © All Rights Reserved
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    Download as docx, pdf, or txt
    of 2

    https://www.kumc.edu/AMA-MSS/Study/table_of_genetic_disorders.

    htm
    https://ghr.nlm.nih.gov/condition/trisomy-18

    Edwards Syndrome: a condition that causes severe developmental delays due to an extra
    chromosome 18 (trisomy 18)
    Very rare
    Chromosomal
    symptoms: Slow growth before birth and low birth weight, small, abnormally shaped
    head; a small jaw and mouth; clenched fists with overlapping fingers
    Most die before birth or within the first month of birth
    5-10% of children with this disease can live past a year and often end up with a severe
    intellectual disability

    https://www.chromosome18.org/trisomy-18/

    Chromosome 18:
    https://ghr.nlm.nih.gov/chromosome/18
    78 million DNA building blocks and represents 2.5% of total DNA in the cells
    Contains about 200-300 genes that provide instructions for making proteins

    Inheritance pattern
    https://edwardssyndrome-nicole.weebly.com/genetics.html
    Is not due from dominant/recessive sex linked or autosomal inheritance
    Occurs randomly during the formation of a sperm and egg
    It is an error in cell division (nondisjunction) results in a reproductive cell with an
    abnormal number of chromosomes
    Nondisjunction - when homologous pairs dont split in meiosis 1 or sister chromatids dont split
    in meiosis 2

    What gene is involved


    Chromosome 18
    Occurs randomly, no mutation
    When the body has three copies of chromosome 18 instead of 2
    Mosaic trisomy 18 - have an extra copy of chromosome 18 in only some of the bodys cells.
    The severity can range from normal to severely affected. Not inherited, occurs as a random
    event during cell division early in embryonic development
    Partial trisomy 18 - part of the long arm of chromosome 18 moves to another chromosome
    during the formation of reproductive cells. This is less severe. Can be inherited as an unaffected
    person can carry a rearrangement of genetic material between chromosome 18 and another
    chromosome ( balanced translocation - no extra material from chromosome 18)

    What is the normal function of this chromosome?


    https://ghr.nlm.nih.gov/chromosome/18
    Represents 2.5% of total DNA

    Genetic risks:
    https://www.nhs.uk/conditions/edwards-syndrome/
    The risk of having a child with edwards syndrome increases with maternal age
    Mothers over the age of 35 are offered tests (screenings) between 10-14 weeks of
    pregnancy to determine if their child will have ES
    There are multiple other tests that can be taken during pregnancy that includes taking
    samples of the fetus cells and scans to look for physical abnormalities

    http://genetics.thetech.org/ask/ask274

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