Autosomal Recessive

“Genes contain the instructions for growth and development. Some gene variations may mean that the gene does not work properly or works in a different way that is harmful. A variation in a gene that causes a health or developmental condition is called a pathogenic variant

If a genetic condition only occurs when both copies of the gene have a change in the message, this change is called a recessive variant

An autosomal gene is a gene located on a numbered chromosome and usually affects males and females in the same way.” [Source]

If you’ve been given a life-limiting diagnosis for your unborn child, we want you to know that joy and sorrow can (and do!) coexist. Click here to reach out for support.