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Chromosome Disorders

Chromosome Disorders. Prenatal Diagnosis. Amniocentesis. A small sample of the amniotic fluid surrounding the baby is removed using a syringe. The fluid contains skin cells from the baby. The skin cells are grown in the lab.

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Chromosome Disorders

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  1. Chromosome Disorders

  2. Prenatal Diagnosis

  3. Amniocentesis • A small sample of the amniotic fluid surrounding the baby is removed using a syringe. • The fluid contains skin cells from the baby. • The skin cells are grown in the lab.

  4. The chromosomes from the cells are magnified under a microscope and a picture is taken. • The chromosomes are cut out and arranged in homologous pairs in decreasing size order. • This is called a karyotype.

  5. Down Syndrome (Trisomy 21) • Extra chromosome 21 in every cell of the body • Causes mental retardation, heart defects • Karyotype = 47,XX+21 or 47,XY+21

  6. As a woman gets older, her chances of having a baby with a chromosome abnormality increases ***remember, a woman is born with all of her egg cells, but meiosis is not yet complete (egg development stops in prophase I until the follicle matures prior to ovulation)

  7. Most cases of Down syndrome are caused by nondisjunction during meiosis • Nondisjunction: homologous chromosomes do not separate properly

  8. http://www.mhhe.com/biosci/genbio/biolink/j_explorations/ch10expl.htmhttp://www.mhhe.com/biosci/genbio/biolink/j_explorations/ch10expl.htm

  9. Turner Syndrome45,X Characteristics • short stature • ovaries do not develop (infertile) • cardiovascular problems • kidney and thyroid problems • skeletal disorders such as scoliosis

  10. Klinefelter Syndrome47,XXY Characteristics • Infertility (cannot produce a lot of sperm) • Learning disability

  11. Trisomy 13 • severe birth defects • mental retardation

  12. Trisomy 18 • severe birth defects • mental retardation

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