Achondroplasia in sibs of normal parents.
Open Access
- 1 December 1988
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (12) , 857-859
- https://doi.org/10.1136/jmg.25.12.857
Abstract
A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.Keywords
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