What Are X-Linked Genetic Disorders?

X-linked genetic disorders are conditions caused by changes (variants) in genes on the X chromosome. Because males have one X chromosome and females have two, these disorders often affect males and females differently.

How are X-linked disorders inherited?

Most X-linked disorders follow a recessive pattern. A male has only one X chromosome, so one changed gene is usually enough to cause the condition. A female has two X chromosomes, so she is often a carrier with mild or no symptoms. When a mother is a carrier, each son has a 50% chance of being affected and each daughter has a 50% chance of being a carrier. An affected father passes his X chromosome to all his daughters, but not to his sons.

What are examples of X-linked disorders?

Well-known X-linked conditions include hemophilia, Duchenne muscular dystrophy, fragile X syndrome and red-green color blindness. Some X-linked conditions follow a dominant pattern, which means one changed copy can affect females too.

Is Turner syndrome an X-linked disorder?

Turner syndrome is not an X-linked disorder in the usual sense. It is a chromosomal condition in which a female has one X chromosome missing or partly missing. It is usually not inherited. Turner syndrome can affect growth and ovary function, so it is important in reproductive health. It is often diagnosed with karyotyping.

How can genetic testing help families?

People with a family history of an X-linked condition can ask a GP about referral for genetic counseling and testing. Testing can show whether someone is a carrier and help them understand their options before or during pregnancy.

Sources: MedlinePlus, MedlinePlus, NHS.

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