一种用于特发性智力障碍患者隐匿性端粒易位筛查的新策略。

Ghaffari S R, Boyd E, Tolmie J L, Crow Y J, Trainer A H, Connor J M

Institute of Medical Genetics, Yorkhill Hospitals Campus, Glasgow, UK.

J Med Genet. 1998 Mar;35(3):225-33. doi: 10.1136/jmg.35.3.225.

Cryptic unbalanced chromosome rearrangements in the telomeric bands of human chromosomes constitute a significant cause of "idiopathic" mental retardation. Here, we have described a new strategy based upon comparative genomic hybridisation (CGH) to screen for these abnormalities. A modified CGH analysis showed three unbalanced cryptic rearrangements in five patients from three families. These chromosome abnormalities and their balanced forms in the relatives were then confirmed by fluorescence in situ hybridisation (FISH). This study describes a new approach to the diagnosis of cryptic translocations between the G band negative ends of chromosomes and confirms the significant contribution of cryptic telomeric rearrangements to idiopathic mental retardation.

人类染色体端粒带中隐匿的不平衡染色体重排是“特发性”智力迟钝的一个重要原因。在此，我们描述了一种基于比较基因组杂交（CGH）的新策略来筛查这些异常情况。一项改良的CGH分析显示，来自三个家庭的五名患者存在三种隐匿的不平衡重排。然后通过荧光原位杂交（FISH）证实了这些染色体异常及其亲属中的平衡形式。本研究描述了一种诊断染色体G带阴性末端之间隐匿易位的新方法，并证实了隐匿的端粒重排对特发性智力迟钝的重要影响。