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How is retinoschisis inherited?

[genetic tree diagram] Genetic diseases are caused by the genetic information that is passed from parents to children. This information is carried in genes that are organized along chromosomes. Most chromosomes and genes come in pairs; each parent donates half of the information to his or her children.

The gene for juvenile X-linked retinoschisis is carried on the X-chromosome. The X-chromosome is important in determining the sex of an individual; females have two X-chromosomes, while males have a single X-chromosome and a single Y-chromosome. If an individual has a Y-chromosome, then they are male. Thus, fathers must give their Y-chromosome to all their sons and their single X-chromosome to all their daughters.

If a male is affected by retinoschisis, then the disease cannot affect his sons. However, all of his daughters will inherit his X-chromosome. These women are known as carriers. They will have normal vision, but because they have inherited the X-chromosome with the non-working retinoschisis gene from their father, they are at risk for having sons and grandsons who are affected. Specifically, they have a 50% risk of having sons who are affected and a 50% risk of having daughters who are carriers, like themselves.
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