karyotypes & genetic disorders

Karyotypes & Genetic Disorders

Honors Biology

Mrs. Glassmeyer

Learning Goals

Unit Learning Goal: Student will be able to thoroughlydescribe how the processes of meiosis and fertilization maintain genetic variation and thoroughly explain ways of how genetic variation results in phenotypic diversity.

Presentation Learning Goal(s): 1. Student can accurately describe a karyotype and

why it would be used.2. Student can compare/contrast a male and female

karyotype.3. Student can describe the impact of a chromosomal

mutation citing a specific example.

Unit Learning Goal Scale

4 - Student will be able to thoroughly describe how the processes of meiosis and fertilization maintain genetic variation and thoroughly explain ways of how genetic variation results in phenotypic diversity.

3 - Student will be able to describe how most of the processes of meiosis and fertilization maintain genetic variation and mostly explain how genetic variation results in phenotypic diversity.

2 – Student can explain some of the learning goal on your own but may need some help to complete the entire learning goal.

1 – Student can answer questions about the learning goal but cannot give specifics using your own words.

Essential KnowledgeWhat is a karyotype? – organization of chromosomes of a eukaryotic organism in size order from largest to smallest

What two types of chromosomes make up a karyotype?• Autosomes – chromosomes that make up a

eukaryotic cell that DO NOT determine sex• Sex chromosomes – one to three chromosomes

that determine sex of an eukaryotic organism. Placed at the end of a karyotype.

Normal Human Male

Normal Human Female

Karyotypes of Human Gametes

Differences???

• What was the difference between the human organism and the human gamete?

Let’s look again.

Things to Know for Analysis

• Make sure the chromosomes are arranged from largest to smallest.

• Trisomy – when there are three chromosomes at a given location in a karyotype.

• Sex chromosomes in location 23 in all karyotypes.

Down’s Syndrome

Klinefelter’s Syndrome

What’s Wrong Here?

Lab Directions

1. You will be given a set of chromosomes. Cut out and arrange chromosomes in size order to create karyotype.

2. Identify genetic disorder based on karyotype. Include chromosome set #, sex, disorder.

3. Create brochure of disorder. Must include description of disorder, support information, and references.

Genetic Disorders• Down’s Syndrome - Trisomy 21 (3 copies of

chromosome 21) • Patau Syndrome - Trisomy 13 (3 copies of

chromosome 13) • Edward’s Syndrome - Trisomy 18 (3 copies of

chromosome 18) • Klinefelter’s Syndrome - XXY (2 copies of

the X chromosome and 1 copy of the Y chromosome)

• Turner’s Syndrome - X (only one copy of the X chromosome)

• Cri Du Chat syndrome – One of the number 5 chromosomes will have a shortened arm

Reflection Time: Learning Goals

Unit Learning Goal: Student will be able to thoroughlydescribe how the processes of meiosis and fertilization maintain genetic variation and thoroughly explain ways of how genetic variation results in phenotypic diversity.

Presentation Learning Goal(s): 1. Student can accurately describe a karyotype and

why it would be used.2. Student can compare/contrast a male and female

karyotype.3. Student can describe the impact of a chromosomal

mutation citing a specific example.

Reflection Time: Learning Goal Scale

4 - Student will be able to thoroughly describe how the processes of meiosis and fertilization maintain genetic variation and thoroughly explain ways of how genetic variation results in phenotypic diversity.

3 - Student will be able to describe how most of the processes of meiosis and fertilization maintain genetic variation and mostly explain how genetic variation results in phenotypic diversity.

2 – Student can explain some of the learning goal on your own but may need some help to complete the entire learning goal.

1 – Student can answer questions about the learning goal but cannot give specifics using your own words.