正常父母的子女患软骨发育不全症的情况。
Achondroplasia in sibs of normal parents.
作者信息
Philip N, Auger M, Mattei J F, Giraud F
机构信息
Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
出版信息
J Med Genet. 1988 Dec;25(12):857-9. doi: 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.
摘要
报告了一对正常父母的子女中出现的复发性软骨发育不全新病例。两名姐妹和一名同父异母的姐妹患病。可以推测出各种机制来解释同一家庭中软骨发育不全意外复发的情况。本文讨论了生殖系嵌合现象和不稳定的前突变。
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