Genetic counselling in unexpected familial recurrence of achondroplasia.
Two additional pedigrees with familial recurrence of achondroplasia are described. Genetic risk for children of sibs of affected individuals or premutation carriers seems to be low, but it is advisable to monitor at risk pregnancies by midtrimester ultrasonography to diagnose fetal achondroplasia.
Department of Human Genetics, University of Liege, Belgium.
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P
Dodinval
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B
Le Marec
D000130:Achondroplasia / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D009154:Mutation; D010375:Pedigree; D012008:Recurrence; D012307:Risk Factors