1. Chromosomal mutations
Karyotypes&
Chromosomal mutations

2. 1. Karyotype – A picture of all of an organisms chromosomes.
*Doctors can use karyotypes to check for chromosomal abnormalities.

3. 2. Mutation – A change in the DNA.
Point (Gene)mutation – affects a single nucleotide.
May be a substitution, insertion or deletion.
Frameshifts are caused by insertions and deletions.

4. 3. Chromosomal Mutations – Changes in the DNA
involving more than a single nucleotide.
Gene duplication – During meiosis, when crossing
over should occur, the chromosomes are not
aligned properly and and one chromosome may
end up with two copies of one gene.

5. b. Translocation – A piece of one chromosome moves
to a nonhomologous chromosome.

6. c. Deletion – Due to breakage, a piece of a chromosome is lost.

7. d. Inversion- A piece of a chromosome breaks off, flips around
and reattaches in the same location.

9. e. Nondisjunction – When homologous chromosomes fail
to separate during meiosis I or when sister chromatids fail
to separate during meiosis II.
Meiotic nondisjunction Flash

12. Edward Syndrome

13. Newborns with Patau syndrome typically present in the neonatal period with
low Apgar scores and may have the following conditions:
-Cleft lip
-Cleft palate
-Polydactyly (postaxial)
-Microcephaly
-Rocker-bottom feet
-Microphthalmia
-Scalp defects (cutis aplasia)
-Hernias
-Neural tube defects
*Most only survive a few days.