karyotypes and genetic disorders

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

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 • Turner Syndrome • Klinefelter Syndrome

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

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