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

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

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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Main Authors: Llerena Jr.,J.C., Cabral de Almeida,J.C., Bastos,E., Crolla,J.A.
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2000
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300006
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spelling oai:scielo:S1415-475720000003000062001-05-04FISH 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 regionLlerena Jr.,J.C.Cabral de Almeida,J.C.Bastos,E.Crolla,J.A.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).info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.23 n.3 20002000-09-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300006en10.1590/S1415-47572000000300006
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countrycode BR
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databasecode rev-scielo-br
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libraryname SciELO
language English
format Digital
author Llerena Jr.,J.C.
Cabral de Almeida,J.C.
Bastos,E.
Crolla,J.A.
spellingShingle Llerena Jr.,J.C.
Cabral de Almeida,J.C.
Bastos,E.
Crolla,J.A.
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
author_facet Llerena Jr.,J.C.
Cabral de Almeida,J.C.
Bastos,E.
Crolla,J.A.
author_sort Llerena Jr.,J.C.
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
description 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).
publisher Sociedade Brasileira de Genética
publishDate 2000
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300006
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