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Thursday, April 7

Wednesday, March 9

  1. page KS Questions edited ... c. Low testosterone levels d. Dyslexia -Answer: Low Testosterone levels 2. True or False…
    ...
    c. Low testosterone levels
    d. Dyslexia
    -Answer: Low Testosterone levels
    2. True or False? Testosterone therapy is more successful during adulthood.
    -Answer: False
    3. Speech, occupational and ___ therapy can establish healthy sex lives, successful careers and social relationships.
    -Answer: Physical
    4. Name three symptoms that affect the physical part of the XXY males.
    -Answers: poor beard growth, breast development, baldness, narrow shoulders, wide hips, long legs and arms, grow less body hair, narrow shoulders, small testicular size.
    5. True or False? A male with this disorder has an extra X chromosome within all of their cells.
    -Answer: False: Males with Kleinfelter’s Disorder have extra X chromosomes within most of their cells, not all.
    6. True or False? Kleinfelter’s Syndrome is when a male inherits ONLY one extra X chromosome.
    -Answer: False: Rarely, males can inherit more than one extra X chromosome.
    7. When is Klinefelter’s Syndrome diagnosed?
    -Answer: Klinefelter’s Syndrome is usually diagnosed around the time of puberty.
    8. Can women have Klinefelter’s Syndrome?
    -Answer: No because people with Klinefelter’s syndrome have a y chromosome.
    9. When a person has Klinefelter’s Syndrome, they have an extra:
    a. Y chromosome
    ...
    c. Chromosome 21
    d. Chromosome 18
    -Answer: X chromosome
    10. True or False? Testosterone helps improve the appearance of muscles.
    -Answer: True
    (view changes)
    8:05 pm
  2. page KS Questions edited This is the Klinefelter's Syndrome Questions page. 1. What symptom of Klinefelter Syndrome enable…
    This is the Klinefelter's Syndrome Questions page.
    1. What symptom of Klinefelter Syndrome enables a man to have children?
    a. Depression
    b. Weaker Bones
    c. Low testosterone levels
    d. Dyslexia
    -Answer: Low Testosterone levels
    2. True or False? Testosterone therapy is more successful during adulthood.
    -Answer: False
    3. Speech, occupational and ___ therapy can establish healthy sex lives, successful careers and social relationships.
    -Answer: Physical
    4. Name three symptoms that affect the physical part of the XXY males.
    -Answers: poor beard growth, breast development, baldness, narrow shoulders, wide hips, long legs and arms, grow less body hair, narrow shoulders, small testicular size.
    5. True or False? A male with this disorder has an extra X chromosome within all of their cells.
    -Answer: False: Males with Kleinfelter’s Disorder have extra X chromosomes within most of their cells, not all.
    6. True or False? Kleinfelter’s Syndrome is when a male inherits ONLY one extra X chromosome.
    -Answer: False: Rarely, males can inherit more than one extra X chromosome.
    7. When is Klinefelter’s Syndrome diagnosed?
    -Answer: Klinefelter’s Syndrome is usually diagnosed around the time of puberty.
    8. Can women have Klinefelter’s Syndrome?
    -Answer: No because people with Klinefelter’s syndrome have a y chromosome.
    9. When a person has Klinefelter’s Syndrome, they have an extra:
    a. Y chromosome
    b. X chromosome
    c. Chromosome 21
    d. Chromosome 18
    -Answer: X chromosome
    10. True or False? Testosterone helps improve the appearance of muscles.
    -Answer: True

    (view changes)
    6:14 pm

Tuesday, March 8

  1. page CF Questions edited ... b. Weight loss c. Wheezing ... lung infections e. e. All the
    ...
    b. Weight loss
    c. Wheezing
    ...
    lung infections
    e.
    e. All the
    (view changes)
    11:36 pm
  2. page Cystic Fibrosis edited ... {64381838-cystic-fibrosis.jpg} WHAT TYPE OF MUTATION OCCURS.. Cystic Fibrosis is caused by…
    ...
    {64381838-cystic-fibrosis.jpg}
    WHAT TYPE OF MUTATION OCCURS..
    Cystic Fibrosis is caused by mutation in Chromosome 7. CFTR, Cystic Fibrosis Transmembrane Conductance Regulator, is what is affected by the mutation. A CFTR gene provides instructions for creating a channel that transports chloride ions, which are negatively charged particles, in and out of the cell. The flow of these negatively charged particles control the movement of water throughout tissues which is key to being able to create thin, easy flowing mucus. The CFTR protein also regulates the function of other channels that produce positively charged ions that are called sodium ions across cell membranes. These sodium ion channels are crucial for the normal function of organs including the lungs and pancreas. When there are disruptions in the CFTR gene, the chloride channels can't regulate the production of chloride ions and water across the cell membrane, and an imbalance of sodium ions also occurs causing the cells that line the walls of the lungs, pancreas, and and other organs to produce a mucus that is extremely thick and sticky. Because of the thickness of this mucus, it clogs up the airways causing the person affected to show common signs of Cystic Fibrosis. 70% of mutations result from the deletion of the three base pairs, which make the amino acid Phenylaline, in CFTR's nucleotide sequence. Because Phenylaline is located at position 508 in the protein, the mutation is called Delta F508. The deletion of Delta F508 is the most common cause of Cystic Fibrosis. With normal CFTR, once the protein has been synthesized it is sent to the Endoplasmic Reticulum and Golgi Apparatus so that it can be additionally looked over and processed before it is finally transferred into the cell membrane. When the Endoplasmic Reticulum notices the Delta F508 mutation, the Endoplasmic Reticulum sees that the protein is made incorrectly, thus the protein is marked as a defective protein and never allowed into the cell membrane.
    
    {http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/Gifs/CFTRdel4.gif} Figure 3: CFTR Mutation {http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/Gifs/chrom7.gif} Chromosome 7
    Figure 3: The deltaF508 deletion is the most common cause of cystic fibrosis.
    The isoleucine (Ile) at amino acid position 507 remains unchanged because
    both ATC and ATT code for isoleucine

    HOW IT IS INHERITED...
    {cf_graphic_1.gif}
    (view changes)
    11:35 pm
  3. page Turner's Syndrome edited ... Women can live with only one X chromosome, but if men were missing their chromosome they would…
    ...
    Women can live with only one X chromosome, but if men were missing their chromosome they would not have essential genes for life. The Y chromosome does not have many essential genes.
    {baby_with.jpg}
    __
    What Type of Mutation causes this Disorder?
    Definition: "an abnormal congenital condition resulting from a defect on or absence of the second sex chromosome, characterized by retarded growth of the gonads."
    ...
    The last type of Turner Syndrome is called Ischromosome. It occurs in 12-20% of cases. This type of Turner Syndrome is a result from the total or partial loss of the arm of the 46th chromosome. This happens when the chromosome divides latitudinally rather than longitudinally, which causes the chromosomal arms to tear. Just like Monosomy Turner Syndrome,called a karyotype.
    For example, if a new-born girl shows signs of the condition, a doctor will order a special blood test. The test counts the number of chromosomes and is able to identify any abnormality, abnormally shaped, or any missing pieces. Sometimes there are no obvious signs that a girl is has Turner's Syndrome, and the condition is not diagnosed until she reaches puberty. If the karyotype blood test reveals that a girl has Turner's Syndrome, the doctor may take additional test to check for kidney, heart, diabetes, or hearing problems. In some conditions, Turner's Syndrome causes mental retardation. the physical and medical features are the same.
    __
    
    Characteristics:
    ...
    · a non-existent menstrual cycle (not due to pregnancy)
    {turner-syndrome.jpg}
    _
    Treatments:
    If caught early in life the first that would be started would be a weekly measured dossage of growth hormones called somatropin
    (view changes)
    11:19 pm
  4. page Turner's Syndrome edited ... The last type of Turner Syndrome is called Ischromosome. It occurs in 12-20% of cases. This ty…
    ...
    The last type of Turner Syndrome is called Ischromosome. It occurs in 12-20% of cases. This type of Turner Syndrome is a result from the total or partial loss of the arm of the 46th chromosome. This happens when the chromosome divides latitudinally rather than longitudinally, which causes the chromosomal arms to tear. Just like Monosomy Turner Syndrome,called a karyotype.
    For example, if a new-born girl shows signs of the condition, a doctor will order a special blood test. The test counts the number of chromosomes and is able to identify any abnormality, abnormally shaped, or any missing pieces. Sometimes there are no obvious signs that a girl is has Turner's Syndrome, and the condition is not diagnosed until she reaches puberty. If the karyotype blood test reveals that a girl has Turner's Syndrome, the doctor may take additional test to check for kidney, heart, diabetes, or hearing problems. In some conditions, Turner's Syndrome causes mental retardation. the physical and medical features are the same.
    ___
    
    Characteristics:
    (view changes)
    11:18 pm
  5. page Turner's Syndrome edited ... _ Treatments: if If caught early used to increase height should be started right when t…
    ...
    _
    Treatments:
    ifIf caught early
    used to increase height
    should be started right when the disease is apparent(or by age of 4)
    (view changes)
    11:16 pm
  6. page Turner's Syndrome edited ... Tuner’s Syndrome is named for Dr. Henry Turner, who officially described the disorder in his b…
    ...
    Tuner’s Syndrome is named for Dr. Henry Turner, who officially described the disorder in his book, in 1939
    Women can live with only one X chromosome, but if men were missing their chromosome they would not have essential genes for life. The Y chromosome does not have many essential genes.
    === {baby_with.jpg}
    ===
    _
    {baby_with.jpg}
    __

    What Type of Mutation causes this Disorder?
    Definition: "an abnormal congenital condition resulting from a defect on or absence of the second sex chromosome, characterized by retarded growth of the gonads."
    (view changes)
    11:15 pm
  7. page Turner's Syndrome edited ... Tuner’s Syndrome is named for Dr. Henry Turner, who officially described the disorder in his b…
    ...
    Tuner’s Syndrome is named for Dr. Henry Turner, who officially described the disorder in his book, in 1939
    Women can live with only one X chromosome, but if men were missing their chromosome they would not have essential genes for life. The Y chromosome does not have many essential genes.
    {baby_with.jpg} === {baby_with.jpg}
    ===
    _

    What Type of Mutation causes this Disorder?
    Definition: "an abnormal congenital condition resulting from a defect on or absence of the second sex chromosome, characterized by retarded growth of the gonads."
    ...
    The first type of Turner Syndrome is Monosomy or Classic Turner Syndrome. This is the most common type of Turner's Syndrome and it affects approximately 50% of all Turner Syndrome cases. Females with this type of Turner syndrome show more of a physical features that are caused by this syndrome. Monosomy is the result of a missing X chromosome from the 23rd pair of chromosomes in every cell.
    The second type of Turner's syndrome is called Mosaicism. Mosaics make up about 30-40% of all cases. This type of syndrome tends to show the least physical features and medical conditions. Females with Mosaic Turner syndrome will have many cells with the normal 46 chromosomes, but some will only have 45 chromosomes, or one slightly altered 46th chromosome. Thought 20% of these females will mentrate naturally, they may experience early menopause beginning in their late 20's or early 30's. Some females with Mosaic Syndrome may become pregnant and deliver perfectly healthy babies, although it is not very common.
    ...
    a karyotype. For
    For
    example, if
    ...
    the same.
    _

    
    Characteristics:
    ...
    · a non-existent menstrual cycle (not due to pregnancy)
    {turner-syndrome.jpg}
    _
    Treatments:
    if caught early in life the first that would be started would be a weekly measured dossage of growth hormones called somatropin
    (view changes)
    11:14 pm

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