X染色体间质缺失导致的无脉络膜症。
Choroideremia in interstitial deletion of the X chromosome.
作者信息
Rosenberg T, Schwartz M, Niebuhr E, Yang H M, Sardemann H, Andersen O, Lundsteen C
出版信息
Ophthalmic Paediatr Genet. 1986 Dec;7(3):205-10. doi: 10.3109/13816818609004140.
An earlier reported family with a deletion of the proximal long arm of the X chromosome was reinvestigated with special attention to the presence of choroideremia. Two females were identified as carriers of choroideremia while a tapeto-retinal dystrophy was ascertained in a mentally retarded boy. RFLP analysis revealed that the interstitial deletion covered the locus DXYS1 and not DXS17. Chromosome studies indicated a deletion within the Xq21 area.
对先前报道的一个X染色体近端长臂缺失的家族进行了重新研究，特别关注脉络膜视网膜病变的存在情况。确定了两名女性为脉络膜视网膜病变携带者，同时在一名智力发育迟缓男孩中发现了毯层视网膜营养不良。限制性片段长度多态性（RFLP）分析显示，中间缺失覆盖了DXYS1位点而非DXS17位点。染色体研究表明在Xq21区域存在缺失。
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