一例患有智力障碍的46,XY,t(1;13)(q24;q32)患者。
A case of 46,XY,t(1;13) (q24;q32) with mental retardation.
作者信息
Wilbur L, Curcuru-Giordano F M, Krishna S G, Kardon N B, Jenkins E C
出版信息
Hum Genet. 1977 Jun 30;37(2):239-42. doi: 10.1007/BF00393588.
PMID:885541
Abstract
A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.
摘要
一名14岁病因不明的先天性畸形智障男孩被发现存在1号染色体长臂与13号染色体长臂之间的新发明显平衡相互易位。仅另有一例观察到类似易位，但断点仅能定位到区域，且个体无智力障碍。
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