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Recurrence Risk

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Question

If a person produces a child with CdLS, what is the recurrence rate of producing another child with CdLS with a different partner? Would it still be 1.5 %?

Answer of our experts

It should be the same. A new partner would eliminate the likelihood of two recessive mutations (one silent mutation carried by each partner) having caused the CdLS in the first place. There are very rare instances of something called gonadal mosaicism, in which the individual is actually carrying a change in a gene that could lead to CdLS in only some of his sperm (or some of her eggs, but it's more commonly seen through males). Even if most of the sperm weren't carrying this abnormal gene, the few that were could make the recurrence risk higher. There would be no way of predicting this until the gene(s) have been located. We would always recommend high-resolution ultrasounds to monitor growth and to look for any malformations

TK 7-13-10

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Recommendation(s)

Familial recurrence risk

R6
Genetic counselling should be offered to all families with a family member with CdLS. Families should be counselled that the recurrence risk of CdLS differs depending on the gene involved. In the non-X-linked forms, the recurrence risk is 0.89% due to germline mosaicism. Autosomal dominant inheritance of CdLS does occur, meaning if one copy of the mutation is present, the individual will show clinical effects. In clinically diagnosed individuals with CdLS, the recurrence risk is 1.5%.

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