1. Human Genetic Disorders
Their symptoms…

2. Crouzon Syndrome genetic disorder, skull bones fuse, 1-25,000 are affected*

3. Albinism inherit genes that do not make the proper amounts of pigment!

4. Albinism !

5. Cystic Fibrosis (CF) homozygous recessive trait on (autosomes)*

6. Sickle Cell Anemia (substitution of adenine for thymine) homozygous recessive*

7. Sickle Cell Anemia

8. Polydactyly (autosomal) homozygous recessive*

9. Polydactyly

10. Webbing of Fingers (autosomal)!

11. Webbing of Toes (autosomal)*

12. Klinefelters Syndrome XXY Nondisjunction
Tallness with extra long arms and legs
Abnormal body proportions (long legs, short trunk)
Enlarged breasts
Lack of facial and body hair
Small firm testes
Small penis
Lack of ability to produce sperm
Diminished sex drive
Sexual dysfunction
Learning disabilities
Personality impairment

13. Klinefelters syndrome presenting “leg ulcers”
1/50 –1/1000 are born
With KS
Extra X chr. #47
Due to anaphase lag
(fails to separate)
Chronic venus
Insufficiencies
Obesity
Reduced testosterone
Therapy (cause)

14. Turners syndrome X Nondisjunction
Turner syndrome is a birth defect caused by the absence of an X chromosome in some or all cells of a female, which inhibits sexual development and usually causes infertility.
MONOSOMY – zygote with 45 chromosomes

15. Continue…
In Turner syndrome, an error occurring very early in development results in an abnormal number and arrangement of chromosomes. Most commonly, an individual with Turner syndrome will be born with 45 chromosomes in each cell rather than 46. The missing chromosome is an X chromosome. The affected person is always female

16. Mosaics…
More than half of all girls with Turner syndrome are mosaics, which means that the mutation occurs in some but not all cells of their body. Therefore, Turner syndrome can vary in severity. The fewer the affected cells, the milder the disease
1 / 2,500 female births have turners syndrome

17. Symptoms of Turner Syndrome
short stature
webbed skin of the neck
abnormal eye features (drooping eyelids)
abnormal bone development, such as a "shield-shaped," broad flat chest
absent or retarded development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair and small breasts
coarctation (narrowing) of the aorta
bicuspid aortic valve
infertility
dry eyes
absence of menstruation

18. Webbed Neck

19. Webbed Neck

20. Turner’s syndrome

21. Mom and her daughter with Turner’s Syndrome*

22. Down’s Syndrome nondisjunction*

23. Children with Down’s syndrome Trisomy 21*

24. Who gets dwarfism and bone dysplasias?
Bone dysplasias and dwarfism are rare. The most common type of dwarfism (achondroplasia) occurs in one in 15,000 children.
A defective gene that stops bone from growing in the usual way causes most bone dysplasias. Sometimes this gene is passed on from a parent to a child (genetic).
Much more often, though, the condition arises from a new change in the gene (spontaneous genetic mutation), and the baby is the first in her family to be affected.

25. Achondroplasia !

26. *

27. Thumbelina has dwarfism*

28. Huntington’s Disease (HD) (autosomal dominant allele)*

29. Symptoms of HD Mild forgetfulness and irritability
Appears between yrs. Old
Loss of muscle control
Uncontrollable physical spasms
Severe mental illness
Eventually death