General Pathology Lecture 4: X-Linked Disorders

What is the chance of inheriting an X-linked disorder from the mother?

50%

Can fathers pass X-linked disorders to sons?

No

What is the pathology of Familial hypophosphatemic rickets?

Inability to absorb calcium

Which vitamin is resisted with Familial hypophosphatemic rickets?

Vitamin D

What is the main symptom of Familial hypophosphatemic rickets?

Shortened bones

What are the two main symptoms of the teeth caused by Familial hypophosphatemic rickets?

1. Short roots

2. Enlarged pulp chambers

Are the majority of X-linked disorders dominant or recessive?

Recessive

What do the sons of female carriers of X-linked recessive disorders have a 50% chance of?

Expressing disorder

What do the daughters of female carriers of X-linked recessive disorders have a 50% chance of?

Becoming carrier

What is the most common color blindness?

Red/green

Are men or women more likely to have color blindness?

Men

What is the common inherited intellectual disability X-linked recessive disorder?

Fragile X Syndrome

What does the Sherman paradox state about Fragile X Syndrome?

Increased risk with successive generations

What are the two main CNS symptoms of Fragile X Syndrome?

1. Intellectual disability

2. Seizures