2. Mendelian Pedigree patterns
Autosomal dominant
Autosomal recessive
X-Linked recessive
X-linked dominant
Y-linked

3. Autosomal dominant (3.2A)
Marfan’s syndrome, Neurofibromatosis, Huntington Disease, Retinoblastoma
An affected person usually has at least one affected parent.
Affects either sex.
Transmitted by either sex.
A child of affected x unaffected mating has a 50% chance of being affected.

5. Autosomal recessive (3.2B)
Cystic fibrosis, Phenylketonuria, Tay-Sachs
Affected people are usually born to unaffected parents.
Parents of affected people usually asymptomatic carriers.
There is an increased incidence of parental consanguinity.
Affects either sex.
After birth of an affected child each subsequent child has 25% chance of being affected.

7. X-linked recessive (3.2C)
Hemophilia, Lesch-Nyhan
Affects mainly males.
Affected males are usually born to unaffected parents; the mother is typically an asymptomatic carrier and may have affected male relatives.
Females may be affected if father is affected and mother is a carrier.
No male to male transmission.

9. X-linked dominant (3.2D) Vitamin D resistant rickets.
Affects either sex, but more females than males.
Females are often more mildly and more variably affected than males.
The child of an affected female, regardless of sex, has a 50% chance of being affected.
For an affected male, all daughters and no sons are affected.

11. Y-linked inheritance (3.2E)
Affects only males.
Affected males always have an affected father unless there is a new mutation.
All sons of an affected man are affected.

13. Mitochondrial diseases
Typical pattern for hearing loss.
Atypical Leber’s hereditary optic atrophy.

15. Complications to basic pedigrees
Typical pattern for blood group O (A).
AD with nonpenetrance in II2 (B).
AD with variable expression (C).
Genetic imprinting (D and E).
X-linked dominant incontinentia pigmenti (F).
X-linked recessive with inbreeding (G).
A new AD mutation, mimicking recessive (H).

16. Complications to basic pedigrees
Typical pattern for blood group O (A).
Appears as a dominant pattern

18. Complications to basic pedigrees
AD with nonpenetrance in II2 (B).

20. Complications to basic pedigrees
AD with variable expression (C).
Waardenburg syndrome
Shading 1st quad = hearing loss
Shading of 2nd quad = different colored eyes
Shading of 3rd quad = white forelock
Shading of 4th quad = premature graying of hair

22. Complications to basic pedigrees
Genetic imprinting (D and E).
AD glomus tumors manifest only when gene s inherited from father (D).
AD Beckwith-Wiedemann syndrome manifests only when gene is inherited from mother (E).

25. Complications to basic pedigrees
X-linked dominant incontinentia pigmenti (F).
Affected males abort spontaneously.

27. Complications to basic pedigrees
X-linked recessive with inbreeding (G).
Inbreeding gives an affected female and apparent male to male transmission.

29. Complications to basic pedigrees
A new AD mutation, mimicking recessive (H).

31. Huntington Age of Onset
Probability that an individual carrying the disease gene will have developed symptoms by a given age (A).
Risk that a healthy child of an affected parent carries the disease gene at a given age (B).

33. New Mutation in X-linked recessive DMD
III1 has the grandparental X which acquired a mutation at some point.
III1 caries a new mutation
II1 is a germinal mosaic (risk for children, but not sisters)
II1 was the result of a single mutation, standard recurrence risk or X-linked recessives, sister free of risk.
I1 was a germinal mosaic, all the sisters have a significant risk, which is hard to quantify.

35. Germinal Mosaic AD osteogenesis imperfecta
Normal = 63bp band, mutant = 72bp band
Both affected sons are heterozygous.
Father’s blood is normal (A lane 5) with sperm abnormal (A lane 10).
Tissue specific mosaicism (B).

39. Hardy-Weinberg Law
p2 + 2pq + q2 = 1.0
p + q = 1.0

40. Incidence
Autosomal recessive q2
Autosomal dominant
p2 + 2pq

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