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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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amniocentesis
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.
slide5
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.
down syndrome trisomy 21
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
slide11
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)

slide12
Most cases of Down syndrome are caused by nondisjunction during meiosis
  • Nondisjunction: homologous chromosomes do not separate properly
slide13
http://www.mhhe.com/biosci/genbio/biolink/j_explorations/ch10expl.htmhttp://www.mhhe.com/biosci/genbio/biolink/j_explorations/ch10expl.htm
turner syndrome 45 x
Turner Syndrome45,X

Characteristics

  • short stature
  • ovaries do not develop (infertile)
  • cardiovascular problems
  • kidney and thyroid problems
  • skeletal disorders such as scoliosis
klinefelter syndrome 47 xxy
Klinefelter Syndrome47,XXY

Characteristics

  • Infertility (cannot produce a lot of sperm)
  • Learning disability
trisomy 13
Trisomy 13
  • severe birth

defects

  • mental

retardation

trisomy 18
Trisomy 18
  • severe birth

defects

  • mental

retardation