FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

被引：2

作者：

Llerena, JC

de Almeida, JCC

Bastos, E

Crolla, JA

机构：

[1] FIOCRUZ, Ctr Genet Med, IFF, BR-22150020 Rio De Janeiro, Brazil

[2] Univ Fed Rio de Janeiro, Inst Biofis Carlos Chagas Filho, Unidade Citogenet Humana, BR-21941 Rio De Janeiro, Brazil

[3] Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England

来源：

GENETICS AND MOLECULAR BIOLOGY | 2000年 / 23卷 / 03期

关键词：

D O I：

10.1590/S1415-47572000000300006

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The absence of mental retardation in the patient suggests that the position of the distal breakpoint may also help to refine the mental retardation locus in the WAGR contiguous gene syndrome (Wilms', aniridia, genital anomalies and mental retardation).

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页码：535 / 539

页数：5

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