1. karyotypes and genetic disorders Objective: to describe and explain how karyotypes are used to detect genetic disorders

2. What is a karyotype?  A karyotype is an organized profile of a person's chromosomes.  In a karyotype, chromosomes are arranged and numbered by size, from largest to smallest.  This arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder.

3. Making a karyotype  To make a karyotype, scientists take a picture of someone's chromosomes, cut them out and match them up  karyotype animation karyotype animation

4. Using Karyotypes to Predict Genetic Disorders  A normal human karyotype has 46 chromosomes: 22 pairs of autosomes and 2 sex chromosomes.  What happens when a person has something different, such as:  Too many or too few?  Missing pieces?  Mixed up pieces?

5. Too many or too few chromosomes  Examples of genetic disorders caused by too many or too few chromosomes  Down Syndrome Down Syndrome  Turner Syndrome Turner Syndrome  Klinefelter Syndrome Klinefelter Syndrome

6. Missing pieces of Chromosomes  Examples of genetic disorders caused by missing pieces of chromosomes  Cri du chat Syndrome Cri du chat Syndrome  Williams Syndrome Williams Syndrome

7. Mixed up pieces of Chromosomes?  Examples of genetic disorders caused by mixed up pieces of chromosomes  Reciprocal Translocation: Philadelphia Chromosome Reciprocal Translocation: Philadelphia Chromosome  Robertsonian Translocation Robertsonian Translocation

8. Mutations  Whenever Chromosomes are too many, too few, missing pieces, or have pieces mixed up...it is called a mutation

9. draw for genetic disorders  You will create a brochure about a genetic disorder such as the ones we saw here  You will be assigned your disorder by random drawing Summarizer: On your KWL pre assessment fill out or add to the L column of numbers 2, 3 and 5