R6
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 0.9% due to germline mosaicism. Autosomal dominant inheritance of CdLS does occur. In clinically diagnosed individuals with CdLS, the empirical recurrence risk is 1.5%.
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