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Chromosome Disorders

Amniocentesis is a prenatal diagnostic procedure where amniotic fluid is sampled using a syringe. This fluid contains skin cells from the fetus, which are cultured in a lab to analyze chromosomes. The chromosomes are arranged into a karyotype to identify potential disorders. Common chromosome disorders include Down Syndrome (Trisomy 21), characterized by an extra chromosome, leading to mental retardation and heart defects. Turner Syndrome (45,X) and Klinefelter Syndrome (47,XXY) also present unique health challenges. Awareness of these conditions is crucial for expectant mothers.

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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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