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Happy Monday! Bellwork:
Quick Write: On the left page of your notes from Friday. In 30 words or more, justify what process is going on in picture one and picture two. Use evidence FROM YOUR NOTES. Happy Monday! Bellwork: READ THE DIRECTIONS! 1. 2.
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Set up Journals Page:_________ Title: Karyotypes
EQ: How are karyotypes used to study genomes and diagnose disease? Due Tomorrow: Notecards: Picture with color Due today: Notecards: word and definition 3 days late for a 50 Pre-AP: Video Homework 2 days late for a 70
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Vocabulary Quiz On-level: Mitosis/Cell Cycle Pre-AP: C-words
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Today’s Standard: (B.6H) the student will describe how techniques such as…chromosomal analysis are used to study the genomes of organisms
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A karyotype is a picture of a person's chromosomes.
In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. A picture is taken. Then, the picture is cut up and rearranged by the chromosome’s size and band pattern. The chromosomes are lined up from largest to smallest. A trained cytogeneticist can look for missing or extra pieces of chromosome. Before After
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Homologous chromosomes = 2 copies of each chromosome
Quick recap: A human has 46 chromosomes in each of his/her somatic cells. 23 come from mom’s gamete (egg) 23 come from dad’s gamete (sperm) Homologous chromosomes = 2 copies of each chromosome
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Words you’ll need to know
Somatic Cells = Body Cells = Diploid Gametes = Sex Cells = Haploid Trisomy = organism has an extra chromosome Monosomy = organism is missing a chromome Nondisjunction = chromosomes fail to split during meiosis
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Average Karyotype (Male) How can you tell?
Chromosome pair 23 determines the gender. Males have an X and Y chromosome. Females will have two X chromosomes.
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In the next few slides…something is NOT “normal”
Time to Analyze… In the next few slides…something is NOT “normal” Can you spot it?
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Triple X Syndrome Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children.
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Cri-du-chat syndrome Cry that is high-pitched and sounds like a cat
Downward slant to the eyes Low birth weight and slow growth Low-set or abnormally shaped ears Intellectual disability Partial webbing or fusing of fingers or toes Single line in the palm of the hand Skin tags just in front of the ear Slow or incomplete development of motor skills Small head (microcephaly) Small jaw (micrognathia) Wide-set eyes Cry of the cat Cri-du-chat (cat's cry) syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5
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Trisomy 13 Patau Syndrome
Infants born itwh trisomy 13 often have several of the following conditions: heart defects kidney defects neurological problems microcephaly (small head) holoprosencephaly (failure of the brain to divide into halves during development) severe mental deficiency polydactylism (extra fingers or toes) deformed feet (rocker-bottom feet) microphthalmia (small eyes) malformed nose cleft lip and/or cleft palate. Due to the existence of many of these life-threatening medical defects many infants with trisomy 13 die within their first days or weeks of life.
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Trisomy 18 Edwards Syndrome
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Trisomy 16 the most common cause of first-trimester miscarriages
Full trisomy 16 means that all of the cells in the baby's body are affected. Full trisomy 16 is incompatible with life and nearly all babies who inherit the condition are miscarried in the first trimester.
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Having only one X results in Turner Syndrome
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XXY is Klinefelter Syndrome
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Trisomy 21 is the cause of down syndrome
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To get started… Fill in your name on your form
Make sure your patient’s karyotype matches the handout (A,B,C). There is allot to do today. You must use teamwork to be successful today. For example…while one person is cutting/pasting another should be completing the questions/answer section. You MUST ask questions if you get stuck.
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Webquest Each person will need a partner.
One partner will grab a computer and login Follow the instructions on the handout to begin the webquest. The assignment is due at the end of class.
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Turn in your paper to me before you leave today.
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Websites to Use: www.mayoclinic.org www.genome.gov/10001204
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