karyotypes and mutations
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Karyotypes and Mutations. Karyotype. An orderly display of magnified images of the individual’s chromosomes Shows the chromosomes as

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  • An orderly display of magnified images of the individual’s chromosomes
  • Shows the chromosomes


they appear in metaphase.

what is a normal karyotype
What is a Normal Karyotype?
  • We are supposed to have 46 total chromosomes in each cell (22 pairs of autosomes = 44, + 2 sex chromosomes).
one source amniocentesis
One source:Amniocentesis
  • Take fluid from amniotic fluid around the baby
  • Can make a karyotype to see if there is a genetic disorder
preparing a karyotype
Preparing a Karyotype
  • 1. Use blood cells.
essay preparing a karyotype
Essay: Preparing a Karyotype
  • 2. Burst RBC (red blood cells) in hypotonic solution.
  • Release WBC (white blood cells).
essay preparing a karyotype7
Essay: Preparing a Karyotype

3. Use a centrifuge to separate the white blood cells from the rest of the blood fluid

preparing a karyotype8
Preparing a Karyotype
  • 4.Add chemical (colchicine) to stop the chromatids in metaphase (stops spindle fibers from forming)
preparing a karyotype cont
Preparing a Karyotype (cont)
  • 5. Drop on a slide.
preparing a karyotype cont10
Preparing a Karyotype (cont)
  • 5. Take a picture
  • 6.Sort by size and shape from largest to smallest
types of karyotypes
Types of Karyotypes
  • Fluorescent to detect a marker showing certain defect
types of karyotypes13
Types of Karyotypes
  • Colored dyes for certain chromosomes
types of karyotypes14
Types of Karyotypes
  • Ideogram: bands locate sites on chromosome
normal karyotype
Normal Karyotype
  • WHY?
  • Is it a Male or

a female?

down syndrome
Down Syndrome
  • Trisomy 21
  • Folds over eyes
  • Sluggish muscles
  • Mental Problems
down syndrome18
Down Syndrome
  • The most common chromosome number abnormality
  • Round face
  • flattened nose bridge
  • small, irregular teeth
down syndrome19
Down Syndrome
  • Short Stature
  • heart defects
  • susceptibility to respiratory infection , leukemia and Alzheimer’s
  • Uneven distribution of chromosomes in cell division
abnormal sex chromosomes
47 XXY syndrome


testes small (sterile)

breast enlargement

feminine body contours


Abnormal Sex Chromosomes
klinefelter s syndrome
Klinefelter’s Syndrome
  • also XXYY, XXXY, XXXXY
turner syndrome
  • XO (only one X)
  • short
  • often web of skin between neck and shoulders
  • sterile
  • poor breast development
what about
What about…

Fragment of the chromosome is lost


Fragment of one chromosome attaches to a homologous chromosome


Fragment reattaches in reverse direction (less likely to produce harm)

  • The chromosome breaksin two places, a piece of the chromosome is removed and the chromosome pieces remaining rejoin.
  • Inversions, by definition, do not involve loss or gain of chromosomal material.
inversion 46 xy inv 16
INVERSION 46,XY,inv(16)
  • The left one is normal and the right one is inverted near the centromere.
45 xx rob 13 14 a robertsonian translocation
45,XX,rob(13,14) A Robertsonian translocation

(an end to end fusion of #13 and #14) There is no net gain or loss of genetic material in this person so they would have a normal phenotype.

Chromosomes from the father of a retarded child... a portion of

chromosome 11 (blue) has been

transfered to chromosome 1(yellow).


Show only one set of chromosomes