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Mini-Genetics Lesson
C.Rudolph 2014 - Mini-Genetics Lesson
Background Geneticists are able to use karyotypes to determine the
chromosomal content of a cell. It wasn't until 1956 that man discovered he
had 46 chromosomes, until this time he thought the number was 48. It wasn't
until 1959 scientists discovered Down Syndrome was the result of an extra
21st chromosome. That means that much of the material you are studying
has been discovered in your grandparent’s or parent's lifetime.
The technique of karyotyping allows us to look at the stained chromosomes in
a cell. Simply counting and arranging the chromosomes allows us to identify many
characteristics. Examining the banding on the chromosomes allows the
determination of some DNA mutations (mistakes). Still, most single gene
mistakes go unnoticed. The major mistake that can be noticed on a karyotype is
a nondisjuction. A nondisjunction occurs when there is an error in meiosis and
results in the fetus having more chromosomes than needed or fewer chromosomes than
needed. Babies can live with certain nondisjuctions, but they often cause serious physical and
developmental challenges for that individual. The challenges faced by some babies are more
severe and they are unable to survive.
Sex Determination
 XX = female
 XY = male (If there’s a Y, it’s a guy!)
Chromosomal Disorder Information
 Trisomy 21 or Down Syndrome: extra #21 47 (XX) or 47 (XY).
 Trisomy 18 or Edward's Syndrome: extra #18 47 (XX) or 47 (XY)
 Trisomy 13 or Patau Syndrome: extra #13 47 (XX) or 47 (XY)
 Turner Syndrome: monosomy X (XO) 45 (XO)
 Klinefelter Syndrome: extra sex chromosome (XXY) 47 (XXY)
Karyotype Organization
 How many chromosomes at each location?
 Where are the sex chromosomes?
 How is the text organized on the page? Why is it organized like this?
 How might you spot something abnormal?

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Building Disciplinary Literacy in Science Using Authentic Texts- Mini Genetics Lesson

  • 1. Mini-Genetics Lesson C.Rudolph 2014 - Mini-Genetics Lesson Background Geneticists are able to use karyotypes to determine the chromosomal content of a cell. It wasn't until 1956 that man discovered he had 46 chromosomes, until this time he thought the number was 48. It wasn't until 1959 scientists discovered Down Syndrome was the result of an extra 21st chromosome. That means that much of the material you are studying has been discovered in your grandparent’s or parent's lifetime. The technique of karyotyping allows us to look at the stained chromosomes in a cell. Simply counting and arranging the chromosomes allows us to identify many characteristics. Examining the banding on the chromosomes allows the determination of some DNA mutations (mistakes). Still, most single gene mistakes go unnoticed. The major mistake that can be noticed on a karyotype is a nondisjuction. A nondisjunction occurs when there is an error in meiosis and results in the fetus having more chromosomes than needed or fewer chromosomes than needed. Babies can live with certain nondisjuctions, but they often cause serious physical and developmental challenges for that individual. The challenges faced by some babies are more severe and they are unable to survive. Sex Determination  XX = female  XY = male (If there’s a Y, it’s a guy!) Chromosomal Disorder Information  Trisomy 21 or Down Syndrome: extra #21 47 (XX) or 47 (XY).  Trisomy 18 or Edward's Syndrome: extra #18 47 (XX) or 47 (XY)  Trisomy 13 or Patau Syndrome: extra #13 47 (XX) or 47 (XY)  Turner Syndrome: monosomy X (XO) 45 (XO)  Klinefelter Syndrome: extra sex chromosome (XXY) 47 (XXY) Karyotype Organization  How many chromosomes at each location?  Where are the sex chromosomes?  How is the text organized on the page? Why is it organized like this?  How might you spot something abnormal?