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Karyotypes
Ouhday S., Drew E., D.J. C.
What are
karyotypes?
  Karyon = kernel, seed, or nucleus
  the number and appearance of chromosomes in the
  nucleus of a eukaryotic cell
  Chromosomes: an organized structure of DNA &
  protein found in cells
     23 pairs (23 from each parent)
  karyogram--compare pairs, sizes, position of
  centromere
  Giemsa dye-staining
What are karyotypes even
used for? (or karyograms of karyotypes) are often
   Karyotypes
      used to determine things about a fetus.
      A blood sample is taken from the mother, and by
      looking at the karyotype, chromosomal abnormalities
      can be determined.
      Observed to see chromosomal and genetic differences
      between species and within the same species over
      time.
      # of chromosomes, the shape/size of chromosomes,
      and sex of an individual can be observed among other
      things.
How karyotyping is
     done.
     Staining
        Giemsa dye after cell division
     Can use almost any cell or tissue
1.   Blood drawn
2.   Amniocentesis (to test amniotic fluid)
3.   Sample grows
4.   Stained
History
   Karl Wilhelm von Nägeli first observed chromosomes
   (via plant cells) in 1842
   1920’s-T.S. Painter, XX/XY system for determining sex
   (not XX/X0)
      48 chromosomes
   1955/1956, Joe Hin Tijo correctly determined # of
   chromosomes (46)
T.S. Painter


Karl Wilhelm von Nägeli




                          Joe Hin Tijo
Abnormalities/Disea
ses
  Turner Syndrome

      missing or incomplete X chromosome

      develop as females

  Down Syndrome

      error in cell division...extra 21st chromosome

      impairments in both cognitive ability and physical growth

  Patau Syndrome

      trisomy of chromosome

      occurs in approximately one out of every ten-thousand to sixteen-thousand
      infants
Turner Syndrome




                   Patau Syndrome
Down Syndrome
Questions!
Who first observed
chromosomes?




     Karl Wilhelm von Nägeli
What’s the Greek word that
 “karyotypes” was derived from?




      Karyon
What’s the name of the dye
used to stain karyotypes?




     Giemsa
Who determined the right number of
 chromosomes in the human
 karyotype?




      Joe Hin Tijo
How many chromosomes
 are in the average human
 karyotype?



     46
To get a karyotype of the fetus,
 a ___ sample is taken from
 the mother.



     Blood
Define “amniocentesis”


     the sampling of amniotic
    fluid using a hollow needle
    inserted into the uterus, to
    screen for developmental
    abnormalities in a fetus
Define “trisomy”


      a condition in which an
     extra copy of a
     chromosome is present in
     the cell nuclei, causing
     developmental
     abnormalities
Which disease is caused by a missing
 or incomplete X chromosome?




      Turner Syndrome
Which chromosome is affected if
 someone has Down Syndrome?




      21st
Which chromosome is affected if
 someone has Patau Syndrome?




      13
Virtual Activity
     Time!
http://learn.genetics.utah.edu/content/be
Video Time!
Youtube

http://www.youtube.com/watch?v=q8errsrd4F
http://www.youtube.com/watch?v=F5Zz0sQP
http://www.youtube.com/watch?v=IHhwGM4
Hands-On
Activity Time!

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