1. Chromosomal Mutations & their effects

2. Karyotype
A picture of the chromosomes of an individual or a species, including number, form, and size of the chromosomes.
Often used to diagnosis chromosomal abnormalities.

3. Chromosomes Humans have 23 pairs
22 pairs are autosomes
1 pair are sex chromosomes
(women = XX, men = XY)
Chromosomes have a centromere that holds the chromatids (two parts of the chromosome) together.
The top ½ of the chromosome is called the “p” arm and the bottom ½ is “q”

4. Nondisjunction Disorder
Nondisjunction is the failure of chromosome pairs to separate during meiosis (making of gametes – sex cells)
it can cause some gametes to gain an extra chromosome and others to lose one
Monosomy = A chromosome having no homologue (matching chromosome)
Trisomy =The condition of having three copies of a given chromosome in each somatic (body) cell rather than the normal number of two.

7. Normal Female Karyotype
Normal Male Karyotype
Normal Female Karyotype

8. Turners Syndrome 1 in 5,000 births 45 chromosomes X only
#23 Monosomy Nondisjunction

9. Turners Syndrome 96-98% do not survive to birth No menstruation
No breast development
No hips
Broad shoulders and neck

10. Cri-Du-Chat Syndrome 1 in 216,000 births 46 chromosomes XY or XX
#5 Deletion of upper arm of chromosome

11. Cri-Du-Chat Syndrome Moon-shaped face Heart disease Mentally retarded
Malformed larynx
Normal lifespan

12. Aniridia-Wilms Tumor Syndrome
1 in 50,000,000 births
46 chromosomes XY or XX
#11 Deletion of upper arm

13. Aniridia-Wilms Tumor Syndrome
Mentally retarded
Growth retarded
Blindness
Tumors on kidneys
Short lifespan

14. Thirteen Q Deletion Syndrome
1 in 500,000 births
46 chromosomes XY or XX
#13 Deletion of lower arm

15. Thirteen Q Deletion Syndrome
Mentally retarded Deformed face
No thumbs Heart disease
Short lifespan

16. Prader-Willi Syndrome
1 in 5,000,000 births 46 chromosomes
XY=97% XX=3%
#15 Deletion of lower arm

17. Prader-Willi Syndrome
Small bird-like head
Mentally retarded
Respiratory problems
Obesity
Short lifespan

18. Eighteen Q Deletion Syndrome
1 in 10,000,000 births
46 chromosomes XY or XX
#18 Deletion of lower arm

19. Eighteen Q Deletion Syndrome
Mentally retarded
Heart disease
Abnormal hands and feet
Large eyes
Large ears
Normal lifespan

20. Cat-Eye Syndrome 1 in 1,000,000 births 46 chromosomes XY or XX
#22 Deletion of bottom arm

21. Cat-Eye Syndrome Fused fingers and toes Mentally retarded Small jaw
Heart problems
Normal lifespan

22. Four-Ring Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX
#4 Inversion

23. Four-Ring Syndrome Cleft palate Club feet Testes don’t descend
Short lifespan

24. Down Syndrome Trisomy Down Syndrome 1 in 31,000 births 46 chromosomes
XY=97% XX=3%
#14/21 Translocation
1 in 1,250 births
47 chromosomes XY or XX
#21 Trisomy Nondisjunction

25. Down Syndrome Short, broad hands Stubby fingers Rough skin
Impotency in males
Mentally retarded
Small round face
Protruding tongue
Short lifespan

26. Patau’s Trisomy Syndrome
1 in 14,000 births
47 chromosomes XY or XX
#13 Trisomy Nondisjunction

27. Patau’s Trisomy Syndrome
Small head
Small or missing eyes
Heart defects
Extra fingers
Abnormal genitalia
Mentally retarded
Cleft palate
Most die a few weeks
after birth

28. Edward’s Trisomy Syndrome
1 in 4,400 births 47 chromosomes
XX=80% XY=20%
#18 Trisomy Nondisjunction

29. Edward’s Trisomy Syndrome
Small head
Mentally retarded
Internal organ abnormalities
90% die before 5 months of age

30. Jacob’s Syndrome 1 in 1,800 births 47 chromosomes XYY only
#23 Trisomy Nondisjunction

31. ? Jacob’s Syndrome Normal physically Normal mentally
Increase in testosterone
Acne
Normal lifespan

32. Kleinfelter Syndrome 1 in 1,100 births 47 chromosomes XXY only
#23 Trisomy Nondisjunction

33. Kleinfelter Syndrome Scarce beard Longer fingers and arms Sterile
Delicate skin
Low mental ability
Normal lifespan

34. Triple X Syndrome 1 in 2,500 births 47 chromosomes XXX only
#23 Trisomy Nondisjunction

35. Triple X Syndrome Normally physically Normal mentally Tall Fertile
normal lifespan