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UNIT 6 : Cell Division What is a karyotype and how is it used to detect genetic disorders?

Karyotype Orderly display of magnified images of an individuals chromosomes. Detects genetic abnormalities caused by mutations. Usually use blood (WBC). UNIT 6 : Cell Division What is a karyotype and how is it used to detect genetic disorders?. Typical Karyotypes. Karyotypes.

carolyn-mcmahon
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UNIT 6 : Cell Division What is a karyotype and how is it used to detect genetic disorders?

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  1. Karyotype Orderly display of magnified images of an individuals chromosomes. Detects genetic abnormalities caused by mutations. Usually use blood (WBC) UNIT 6: Cell DivisionWhat is a karyotype and how is it used to detect genetic disorders?

  2. Typical Karyotypes Karyotypes

  3. Abnormalities • Alterations in chromosomes ex. Down Syndrome • Extra copy of chromosome 21 • Most common chromosome number abnormality • 1 out of 700 children affected in U.S. • Can also have a mutation occur during meiosis which affects sex chromosomes, X and Y • Ex. XXY, XXX • XXY-Klinefelter Syndrome-sterile male • XXX-Metafemale-Limited fertility http://www.mwit.ac.th/~bio/assets/karyotype_mutation.swf Karyotypes

  4. Turner’s Syndrome

  5. Most children with Down syndrome have mild to moderate cognitive disability. About half of the children who have Down syndrome are born with a heart defect. Children with Down syndrome are also prone to developing other health problems. For example, respiratory infections, hearing problems, and dental problems are common. Down’s Syndrome

  6. Many men who have Klinefelter syndrome do not have obvious symptoms. Some boys with Klinefelter syndrome have language and learning problems. Klinefelter’s

  7. Cri du Chat Cry that is high-pitched and sounds like a cat Downward slant to the eyes Low birth weight and slow growth Intellectual disability Partial webbing or fusing of fingers or toes Slow or incomplete development of motor skills Small head Small jaw Wide-set eyes

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