与t(1;2)(p22.1;q36)相关的常染色体显性斑驳病和智力迟钝综合征
Autosomal dominant piebaldism and mental retardation syndrome associated with a t(1;2) (p22.1;q36).
作者信息
Rivera H, Alvarez-Arratia M C, Moller M, Tinoco-Contreras M, Flores-Perez A, Cantu J M
出版信息
J Genet Hum. 1986 Aug;34(3-4):321-5.
PMID:3760835
Abstract
A syndrome of piebaldism and mild to moderate mental retardation was present in 3 sibs and their father. Besides, the disorder was segregating concordantly with a t(1;2) (p22.1;q36). It is concluded that the syndrome is due, either by gene breakage or dysfunction, to the translocation.
摘要
3名同胞及其父亲患有斑驳病合并轻至中度智力发育迟缓综合征。此外，该病症与t(1;2)(p22.1;q36)呈一致分离。结论是，该综合征是由基因断裂或功能障碍导致的易位引起的。
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