A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation

被引：57

作者：

Ghaffari, SR ^{[1
]}

Boyd, E ^{[1
]}

Tolmie, JL ^{[1
]}

Crow, YJ ^{[1
]}

Trainer, AH ^{[1
]}

Conner, JM ^{[1
]}

机构：

[1] Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 03期

关键词：

mental retardation; comparative genomic hybridisation; telomere;

D O I：

10.1136/jmg.35.3.225

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：225 / 233

页数：9

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