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X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.
The Y chromosome is the other half of the XY gene pair in the male. However, the Y chromosome doesn't contain most of the genes of the X chromosome. It therefore doesn't protect the male. This is seen in diseases such as hemophilia and Duchenne muscular dystrophy.
TYPICAL SCENARIOS
For a given birth, if the mother is a carrier (only one abnormal X chromosome) and the father is a normal carrier:
- 25% chance of a healthy boy
- 25% chance of a boy with disease
- 25% chance of a healthy girl
- 25% chance of a carrier girl without disease
If the father has the disease and the mother is a normal carrier:
- 100% chance of a healthy boy
- 100% chance of a carrier girl without disease
X-LINKED RECESSIVE DISORDERS IN FEMALES
Females can get an X-linked recessive disorder, but this is very rare. An abnormal gene on the X chromosome from each parent would be required, since a female has two X chromosomes. This could occur in the two scenarios below.
For a given birth, if the mother is a carrier and the father has the disease:
- 25% chance of a healthy boy
- 25% chance of a boy with the disease
- 25% chance of a carrier girl
- 25% chance of a girl with the disease
If the mother has the disease and the father has the disease:
- 100% chance of the child having the disease, whether boy or girl.
The odds of either of these two scenarios are so low that X-linked recessive diseases are sometimes referred to as “male only” diseases. However, this is not technically correct.
Female carriers can have a normal X chromosome that is abnormally inactivated. This is called "skewed X-inactivation." These females may have symptoms similar to those of males.
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