1. KARYOTYPES
A diagram showing the arrangement of chromosomes aligned with their homologous chromosome
Allows doctors to determine if an unborn child will have a chromosome disorder

2. A Human Karyotype Human cells have 46 chromosomes
Each chromosome has a matched chromosome called its HOMOLOGOUS chromosome.
These matched pairs contain similar genetic information
This is a normal male

3. AMNIOCENTESIS Procedure done to create karyotype
Amniotic fluid is removed from womb (contains baby’s cells)
Chemical added to start mitosis (chromosomes become visible)
Picture taken, chromosomes cut out & matched. Then arranged

4. Can you identify this karyotype?
What is the sex of this individual?
How many chromosomes does this individual have?
Is this a normal or abnormal karyotype?

5. DOWNS SYNDROME Results from an extra 21st chromosome (trisomy 21)
RISK FACTOR INCREASES WITH MOTHER’S AGE
Impaired cognitive ability
Impaired physical growth
Short chin Round face
Thick tongues Almond shaped eyes
Poor muscle tone
Congenital heart problems
Gastrointestinal problems
Thyroid problems

6. KLINEFELTER SYNDROME
Males have an extra X chromosome (XXY)

7. TURNER SYNDROME
Females are missing an X
Chromosome (X0)

8. Can you identify this karyotype?
What is the sex of this individual?
How many chromosomes does this individual have?
Name the condition
MALE;
47;
abnormal karyotype; KLINEFELTER SYNDROME

9. Can you identify this karyotype?
What is the sex of this individual?
How many chromosomes does this individual have?
Name the condition
FEMALE 47
DOWN SYNDROME

10. Can you identify this karyotype?
What is the sex of this individual?
How many chromosomes does this individual have?
Name the condition
FEMALE 45
TURNER SYNDROME