Pedigree Quiz

Autosomal recessive

Pattern of inheritance?

Autosomal recessive

Pattern of inheritance?

Autosomal recessive w/ locus heterogeneity

Pattern of inheritance?

Autosomal dominant

Pattern of inheritance?

Autosomal dominant, illustrating homozygote lethality/semi-dominance

Pattern of inheritance?

X-linked recessive

Pattern of inheritance?

X-linked dominant

Pattern of inheritance?

She is a non-penetrant carrier

If this is for an autosomal dominant trait, what must be true of II-6?

Male-limited autosomal dominant

No, the trait cannot be Y linked because a female transmits the trait. It cannot be X-linked because there is male to male transmission.

Pattern of inheritance?

Can it be Y linked? Can it be X-linked?

1/3

What is the risk that II-3 carries the trait?

1/17

What is the risk that II-3 carries the trait?

Autosomal recessive

These statements describe which pattern of inheritance?

Tends to skip generations, unaffected parents can have affected offspring, horizontal transmission

Autosomal dominant

These statements describe which pattern of inheritance?

Unaffected parents produce only unaffected offspring, trait tends to appear in every generation, affects both sexes equally

Autosomal dominant

Pattern of inheritance in achondroplasia?

-Non-paternity

-A new mutation (germline mosaicism if 2 or more children are affected)

-Incomplete penetrance

-Variable expressivity

What can explain sporadic cases of autosomal dominant disorders?

X-linked recessive

This statement describes which pattern of inheritance?

Tends to affect more males.

X-linked dominant

This statement describes which pattern of inheritance?

Tends to affect more females.

X-linked recessive

Pattern of inheritance in Duchenne's muscular dystrophy?

X-linked dominant

This statement describes which pattern of inheritance?

Affected fathers with unaffected mates have only affected daughters and no affected sons.

Autosomal recessive, but it is sex influenced because females are less likely to show symptoms

Pattern of inheritance in hereditary hemochromatosis?

Autosomal recessive

This statement describes which pattern of inheritance?

Mostly caused by loss-of-function mutations.

Autosomal recessive

Pattern of inheritance in cystic fibrosis?

Autosomal dominant

Pattern of inheritance in familial hypercholesterolemia?

X-linked recessive

This statement describes which pattern of inheritance?

All affected males received the trait from unaffected females.

X-linked recessive

Pattern of inheritance in hemophilia?

X-linked dominant

Pattern of inheritance in Rett syndrome?

Autosomal dominant

Pattern of inheritance in osteogenesis imperfecta?

X-linked dominant with reduced penetrance in females

Pattern of inheritance in fragile x syndrome?

Autosomal dominant

Pattern of inheritance in myotonic dystrophy?

Autosomal dominant

Pattern of inheritance in Huntington's?