两例13号染色体长臂缺失型视网膜母细胞瘤及两例因家族性插入导致的部分三体病例。
Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion.
作者信息
Turleau C, de Grouchy J, Chavin-Colin F, Despoisses S, Leblanc A
出版信息
Ann Genet. 1983;26(3):158-60.
PMID:6316832
Abstract
A del(13)(q13q21.1) was found in a patient with bilateral retinoblastoma and mental retardation. The father was carrier of an ins(16;13)(q12.2;q13q21.1) which also was present in several other family members, and responsible for another case of del (13q)-retinoblastoma and two cases of trisomy for the inserted segment. This second del(13q) patient was also carrier of a balanced t(11;22).
摘要
在一名患有双侧视网膜母细胞瘤和智力发育迟缓的患者中发现了13号染色体长臂1区3带至2区1带1亚带缺失[del(13)(q13q21.1)]。父亲是16号染色体长臂2区2带至13号染色体长臂1区3带至2区1带1亚带插入[ins(16;13)(q12.2;q13q21.1)]的携带者，该插入也存在于其他几名家庭成员中，并且导致了另外一例13号染色体长臂缺失（del(13q)）视网膜母细胞瘤以及两例插入片段三体病例。第二名13号染色体长臂缺失（del(13q)）患者也是平衡易位t(11;22)的携带者。
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