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.

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 28; no. 4; p. 949
Main Authors Dodinval, P, Le Marec, B
Format Journal Article
LanguageEnglish
Published United States 01.12.1987
Subjects
Achondroplasia - genetics
Adult
Aged
Female
Genetic Carrier Screening
Genetic Counseling
Humans
Mutation
Pedigree
Recurrence
Risk Factors
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320280421