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    Chromo Som

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    della
    Chromosomes are genetic structures that contain DNA and proteins. They function to store genetic material. The main parts of a chromosome include the centromere, telomeres, and loci. Chromosomal abnormalities can be caused by changes in the number (aneuploidy) or structure (deletions, duplications) of chromosomes. Some examples of chromosomal disorders discussed in the document include Down syndrome, Turner syndrome, Klinefelter syndrome, and Edwards syndrome. Down syndrome is caused by trisomy of chromosome 21 and is associated with developmental delays and distinctive physical features. Turner syndrome occurs in females missing one X chromosome.

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    Chromo Som

    Uploaded by

    della
    112 views4 pages
    Chromosomes are genetic structures that contain DNA and proteins. They function to store genetic material. The main parts of a chromosome include the centromere, telomeres, and loci. Chromosomal abnormalities can be caused by changes in the number (aneuploidy) or structure (deletions, duplications) of chromosomes. Some examples of chromosomal disorders discussed in the document include Down syndrome, Turner syndrome, Klinefelter syndrome, and Edwards syndrome. Down syndrome is caused by trisomy of chromosome 21 and is associated with developmental delays and distinctive physical features. Turner syndrome occurs in females missing one X chromosome.

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    Chromosomes are genetic structures that contain DNA and proteins. They function to store genetic material. The main parts of a chromosome include the centromere, telomeres, and loci. Chromosomal abnormalities can be caused by changes in the number (aneuploidy) or structure (deletions, duplications) of chromosomes. Some examples of chromosomal disorders discussed in the document include Down syndrome, Turner syndrome, Klinefelter syndrome, and Edwards syndrome. Down syndrome is caused by trisomy of chromosome 21 and is associated with developmental delays and distinctive physical features. Turner syndrome occurs in females missing one X chromosome.

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    Download as doc, pdf, or txt
    112 views4 pages

    Chromo Som

    Uploaded by

    della
    Chromosomes are genetic structures that contain DNA and proteins. They function to store genetic material. The main parts of a chromosome include the centromere, telomeres, and loci. Chromosomal abnormalities can be caused by changes in the number (aneuploidy) or structure (deletions, duplications) of chromosomes. Some examples of chromosomal disorders discussed in the document include Down syndrome, Turner syndrome, Klinefelter syndrome, and Edwards syndrome. Down syndrome is caused by trisomy of chromosome 21 and is associated with developmental delays and distinctive physical features. Turner syndrome occurs in females missing one X chromosome.

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    Structure and Function of Chromosomes and the disorders

    Definition : genetics unit in the nucleus composed of proteins and DNA.


    Function : As a storage material Genetics
    Structure :

    1.kromonema: spiral-shaped ribbon.


    2.kromomer: kromonema thickened.
    3.centromere: inside there are small granules called spherical.
    4.locus: the place occupied DNA.
    5.Telomere: the ends of chromosomes function hinders the convergence of the
    ends of 6.chromosomes one with the other end.
    7.satellite.
    chromosome shape based on the location of the centromere :
    1. Metasentris: the centromere is located median
    2. Submetasentris: the centromere is located submedian.
    3. Akrosentris: the centromere is located subterminal.
    4. Telosentris : the centromer located at the threshold.
    Tjio and levan (1956)
    proven techniques chromosome examination stated that the nucleus of human
    cells contain 46 chromosomes. 46xx for woman. 46xy for man.
    chromosomal abnormality based on chromosom number is divided into
    two:
    1. euploidi: change the entire set of chromosomes.
    Monoploid : n
    Poliploid :more than 2n

    2. aneupoidi: modifiers on a single chromosome alone.


    Monosomic : 2n-1
    Sindrom turner
    a genetic disorder in women because of loss of one chromosome X.
    This happens because the chromosome is missing or nondisjunction
    moment or during gametogenesis (formation of gametes) or in the early
    stages of division of the zygote.
    characteristics:
    - loss of skin folds around the neck
    - swelling of the hands and feet
    - resembling the face of a small child
    - infertile
    - no ovaries and uterus
    Nullisomic : 2n-2
    Trisomic : 2n+1

    Autosom :
    1. Down Syndrom :
    Down syndrome is a genetic disorder caused when
    abnormal cell division results in extra genetic material
    from chromosome 21.

    Though not all children with Down syndrome have the same
    features, some of the more common features are:

    Flattened facial features


    Small head

    Short neck

    Protruding tongue

    Upward slanting eyes, unusual for the child's ethnic


    group

    Unusually shaped or small ears

    Poor muscle tone

    Broad, short hands with a single crease in the palm

    Relatively short fingers and small hands and feet

    Excessive flexibility

    Tiny white spots on the colored part (iris) of the eye


    called Brushfield spots

    Short height

    2. Patau Syndrom:
    is a syndrome caused by a chromosomal abnormality, in
    which some or all of the cells of the body contain extra
    genetic material from chromosome 13.
    3. Edward Syndrom:
    a chromosomal abnormality caused by the presence of all,
    or part of, an extra 18th chromosome. This genetic
    condition almost always results from nondisjunction during
    meiosis.

    Gonosom
    1) Klinefelter Syndrom
    is the set of symptoms that result from two or more X
    chromosome in males. XXY. . Sometimes symptoms are more
    prominent and may include weaker muscles, greater height,
    poor coordination, less body hair, smaller genitals, breast
    growth, and less interest in sex.

    2) Jacob Syndrom
    XYY Syndrome is a genetic condition that occurs when a
    males genes have an extra Y chromosome. Females typically
    have two X chromosomes (XX). Males typically have one X
    chromosome and one Y chromosome (XY). Males with this
    genetic condition have an extra copy of the Y chromosome in
    each of their cells (XYY)

    3) Super Woman
    Triple X syndrome occurs when a woman has an excess of sex
    chromosomes, the X chromosome(XXX)
    Double trisomi :2n+1+1
    Tetrasomi : 2n+2

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