Achondroplasia in sibs of normal parents.
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.
Philip
N
N
Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
Auger
M
M
Mattei
J F
JF
Giraud
F
F
D000130:Achondroplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree