The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

X-linked Inheritance

X-Linked Inheritance refers to diseases that are caused by mutations in genes on the X chromosome. Males only have one copy of the X chromosome. If there is a mutation in a gene on their one X chromosome, males will have the disease. Females have two X chromosomes. Women with a mutation in a gene on one of their X chromosomes are often referred to as carriers. Females are usually less likely than males to show symptoms of an X-linked disease. However, some females who are carriers of X-linked conditions experience some symptoms. A woman with a mutation on the X chromosome has a 50% (1 in 2) chance to pass the mutation on to each of her children and a 50% chance to NOT pass on the mutation. If a son inherits the mutation, he will be affected. If a daughter inherits the mutation, she will be a carrier. The diagram above shows how this happens.




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