Recurrence risk for sibs of children with "sporadic" achondroplasia.
Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured. Data from 11 Canadian genetics centers provide an estimate of 1/443, or 0.02%.
Mettler
G
G
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Fraser
F C
FC
D002648:Child; D006801:Humans; D009030:Mosaicism; D009679:Nuclear Family; D010009:Osteochondrodysplasias / Q000453:epidemiology* / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors