Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.

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Main Authors: Sandrin-Garcia,Paula, Richieri-Costa,Antonio, Tajara,Eloiza Helena, Carvalho-Salles,Andréa Borduchi, Fett-Conte,Agnes Cristina
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2007
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006
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spelling oai:scielo:S1415-475720070001000062007-03-26Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomaliesSandrin-Garcia,PaulaRichieri-Costa,AntonioTajara,Eloiza HelenaCarvalho-Salles,Andréa BorduchiFett-Conte,Agnes Cristina velocardiofacial syndrome 22q11.2 deletion The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.30 n.1 20072007-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006en10.1590/S1415-47572007000100006
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Sandrin-Garcia,Paula
Richieri-Costa,Antonio
Tajara,Eloiza Helena
Carvalho-Salles,Andréa Borduchi
Fett-Conte,Agnes Cristina
spellingShingle Sandrin-Garcia,Paula
Richieri-Costa,Antonio
Tajara,Eloiza Helena
Carvalho-Salles,Andréa Borduchi
Fett-Conte,Agnes Cristina
Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
author_facet Sandrin-Garcia,Paula
Richieri-Costa,Antonio
Tajara,Eloiza Helena
Carvalho-Salles,Andréa Borduchi
Fett-Conte,Agnes Cristina
author_sort Sandrin-Garcia,Paula
title Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
title_short Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
title_full Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
title_fullStr Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
title_full_unstemmed Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
title_sort fluorescence in situ hybridization (fish) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
description The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.
publisher Sociedade Brasileira de Genética
publishDate 2007
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006
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