1. Karyotypes and Genetic Disorders
A Change in DNA

2. Karyotypes
Karyotype- Picture of all of the chromosomes in a person’s cells.
A picture of the chromosome is taken through a microscope. They are then cut out and arranged on a karyotype in order from largest to smallest and by chromosome number.

4. Random Chromosomes
Arranged Chromosomes

5. What information can you get from a karyotype?
Diagnose disease
Determine Gender

6. Example
The following karyotype is for a female who is affected with down syndrome:
Female

7. Example
This one is for a female who is affected with Turner’s Syndrome.
Only one sex chromosome present

8. Down’s Syndrome Also called Trisomy 21 Affects on the body:
Physical features and medical problems vary widely from child to child
Flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.
Low muscle tone (hypotonia)
Mild to moderate intellectual impairment
Hearing and visual problems
Medical problems can include: thyroid problems, intestinal abnormalities, epilepsy, respiratory problems, immune deficiencies and obesity.

9. How is it inherited:
At the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father.
In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with Down’s Syndrome

10. Rate of Afflictions: Mortality rates:
It affects about 1 in every 800 babies.
Mortality rates:
55 years

11. Down’s Syndrome Karyotype

12. Turner’s Syndrome Affects on the body:
Physical features and medical problems vary widely from child to child
Short in stature
Under developed ovaries, which results in infertility
a "webbed" neck
a low hairline at the back of the neck
drooping of the eyelids
differently shaped ears that are set lower on the sides of the head than usual
abnormal bone development
edema or extra fluid in the hands and feet
Medical problems include: kidney problems, high blood pressure, diabetes and thyroid problems

13. How is it inherited:
Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome.
The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body's cells are affected by the changes to the X chromosome

14. Rate of Afflictions: Mortality rates:
It affects about 1 in every 2,500 girls.
Mortality rates:
If fetus makes it past the neonatal period, life expectancy is reduced by 10 years.

15. Turner’s Syndrome Karyotype

16. Klinefelter’s Syndrome
Also known as XXY condition
Affects on the body:
Taller, less muscular body
Less facial and body hair, and broader hips
As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.
Medical problems include: immune disorders, breast cancer, vein diseases, osteoperosis, tooth decay, infertility

17. How is it inherited:
Most males are born with one X and one Y chromosome. Klinefelter’s syndrome affects males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern.

18. Rate of Afflictions:
It affects about one of every 500 males, but many don’t have any symptoms
Mortality Rates:
The mortality rate is not significantly higher than in healthy individuals.

19. Klinefelter’s Syndrome Karyotype

20. Edward’s Syndrome Also known as Trisomy 18 Affects on the body:
The extra chromosome is lethal for most babies. It causes major physical abnormalities and severe mental retardation, and very few children afflicted with this disease survive beyond a year.

21. More affects of Trisomy 18
Appear weak and fragile, and underweight.
The head is unusually small and the back of the head is prominent. The ears are malformed and low-set, and the mouth and jaw are small.
May also have a cleft lip or cleft palate.
The hands are clenched into fists, and the index finger overlaps the other fingers.
Clubfeet and toes may be webbed or fused.
Medical problems include: Abnormalities in the lungs and diaphragm, heart defects, blood vessel malformations, malformed kidneys.

22. How is it inherited:
A child inherits three, rather than two, copies of chromosome 18.

23. Rate of Affliction:
It affects one in every 3,000 newborns and affects girls more often than boys
Mortality Rates:
95% do not survive beyond the fetus, those that do, tend to not survive beyond 1year.

24. Edward’s Syndrome Karyotype

25. Cri-du-chat Syndrome Affects on the body:
Physical features and medical problems vary widely from child to child
Monotone, weak, cat-like cry
Small head (microcephally) with a round face
High palate
Small receding chin (micrognathia)
Widely spaced eyes (hypertelorism)
Low set ears
Low broad nasal ridge
Folds of skin over the upper eyelid (epicanthic folds)
Distinctive palmar creases (creases on the palms of the hands)

26. How is it inherited:
It results from the loss or deletion of a significant portion of the genetic material from the short arm chromosome number 5
More girls than boys are affected by cri-du-chat

27. Rate of Affliction-
Affects between 1 in 37,000 babies are affected.
Mortality rate: With medical intervention, 6-8% may survive to adulthood

28. Cri-du-chat Syndrome Karyotype

29. Fragile-X Syndrome Affect on the body:
 Physical features and medical problems vary widely from child to child
Mental retardation
 Hyperactivity
 Short attention span
 Tactilely defensive
 Hand-flapping
 Hand-biting
 Poor eye contact
 Hyperextensible joints
 Large or prominent ears

30. How is it inherited:
A change or mutation in a gene on the X chromosome causes the fragile X syndrome. The mutation is in the DNA of the X chromosome. The gene appears in three forms that are defined by the number of repeats of a pattern of DNA called CGG repeats. Individuals with over 200 repeats have a full mutation which causes fragile X syndrome. The full mutation causes the gene to shut down.

31. Rate of Affliction: Mortality Rate:
Affects 1 in 3600 males and 1 in 4000 to 6000 females
Mortality Rate:
Life span is generally unaffected by the disorder

32. Fragile-X Syndrome Karyotype