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X-linked inheritance

The recessive, regular form

This inheritance pattern only refers to genes that are present on the X chromosome. Females have two X chromosomes and males have one X and one Y chromosome. This is the reason why a male who carries an abnormal gene on his single X chromosome will express clinical signs of disease whereas a woman who has an abnormal gene on only one of her X chromosomes will be a carrier. A female carrier has a 50% chance in each pregnancy of transmitting her healthy X chromosome or her abnormal X chromosome to the fetus. The 50% of the children (both sons and daughters) who receive the normal X chromosome will all be healthy and not carriers. However, the 50% of the sons who receive the abnormal X chromosome will all be affected, and the 50% of the daughters who receive this chromosome will all be carriers like their mother.

An example of a disease transmitted by X-linked recessive inheritance is hemophilia A (a blood clotting disorder).

X-linked inheritance

The dominant, rarer form

This inheritance pattern also only refers to genes that are present on the X chromosome, but unlike in X-linked recessive inheritance (see above), carrier females will express some clinical signs. Only a very small number of syndromes are transmitted in this manner. An example is vitamin D-resistant rickets.

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