The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

Autosomal Recessive Inheritance

Autosomal recessive inheritance refers to diseases that are caused by mutations that are present in both copies of a gene on one of the non-sex chromosomes. One mutated gene is inherited from the mother and one from the father. Both parents of someone who has an autosomal recessive disorder are called “carriers.” These parents have one normally-functioning copy of the gene and one copy of the gene with the mutation. Couples who each carry a recessive mutation in the same gene have a 25% (1 in 4) chance that a child will be affected. The diagram above shows how this happens.




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