karyotypes and genetic disorders

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

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.

Making a karyotype

To make a karyotype, scientists take a picture of someone's chromosomes, cut them out and match them up

karyotype animation

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?

Too many or too few chromosomes

Examples of genetic disorders caused by too many or too few chromosomes

Down Syndrome Turner Syndrome Klinefelter Syndrome

Missing pieces of Chromosomes

Examples of genetic disorders caused by missing pieces of chromosomes

Cri du chat Syndrome Williams Syndrome

Mixed up pieces of Chromosomes?

Examples of genetic disorders caused by mixed up pieces of chromosomes

Reciprocal Translocation: Philadelphia Chromosome

Robertsonian Translocation

Mutations

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

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