Genetic counselling in unexpected familial recurrence of achondroplasia
- 30 November 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 28 (4) , 949-954
- https://doi.org/10.1002/ajmg.1320280421
Abstract
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 ultrasonogra‐phy to diagnose fetal achondroplasia.Keywords
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