视网膜母细胞瘤伴13号染色体长臂缺失，与母亲13号染色体臂间倒位相关。
Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.
作者信息
Sparkes R S, Muller H, Klisak I
出版信息
Science. 1979 Mar 9;203(4384):1027-9. doi: 10.1126/science.424728.
PMID:424728
Abstract
A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.
摘要
一名患有散发性单侧视网膜母细胞瘤和智力发育迟缓的女孩，其13号染色体长臂存在间质性缺失。她的母亲有一条13号染色体的臂内倒位；女儿缺失的13号染色体源自母亲的正常13号染色体。
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