Andermann syndrome


How is Andermann Syndrome inherited?

Andermann Syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the SLC12A6 gene in cells carry the gene change. The parents of children with autosomal recessive conditions each carry one copy of the gene change but usually do not show signs of the condition themselves. If both parents carry a change in the SLC12A6 gene, each pregnancy between the parents of the affected child will have a 25% (1 in 4) chance of receiving two copies of the gene change causing the baby to have Andermann Syndrome. Approximately 50% (1 in 2) of the children between the parents of the affected child would have one copy of the change making them carriers and likely unaffected, while 25% (1 in 4) of children would have two normal copies of the gene.

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