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Chromosome Disorders
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Prenatal Diagnosis
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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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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.
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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
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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)
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Most cases of Down syndrome are caused by nondisjunction during meiosis
Nondisjunction: homologous chromosomes do not separate properly
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http://www. mhhe. com/biosci/genbio/biolink/j_explorations/ch10expl
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Turner Syndrome 45,X Characteristics short stature
ovaries do not develop (infertile) cardiovascular problems kidney and thyroid problems skeletal disorders such as scoliosis
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Klinefelter Syndrome 47,XXY
Characteristics Infertility (cannot produce a lot of sperm) Learning disability
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Trisomy 13 severe birth defects mental retardation
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Trisomy 18 severe birth defects mental retardation
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http://iteachbio. com/Life%20Science/Genetics/Chromosome%20Disorders
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