因涉及8q24的明显平衡易位所致的I型毛发-鼻-指（趾）综合征（TRP I）
Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.
作者信息
Marchau F E, Van Roy B C, Parizel P M, Lambert J R, De Canck I, Leroy J G, Gevaert C M, Willems P J, Dumon J E
机构信息
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
出版信息
Am J Med Genet. 1993 Feb 15;45(4):450-5. doi: 10.1002/ajmg.1320450411.
Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).
I型和II型毛发-鼻-指（趾）综合征（TRP）由位于8号染色体q24.1的缺陷基因引起。我们报告了一个家庭，有2名患I型TRP的同胞，同时存在一条涉及8q24.11的明显平衡的染色体（8；18）易位。8号染色体q24易位断点很可能与TRP基因在物理上相连，从而便于未来克隆TRP基因的研究工作。
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