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

Genetics and Molecular Biology

Paula Sandrin-garcia²  Antonio Richieri-costa¹  Eloiza Helena Tajara¹  Andréa Borduchi Carvalho-salles¹  Agnes Cristina Fett-conte¹ 

[1],Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto Departamento de GenéticaRibeirão Preto SP ,Brazil

关键词: velocardiofacial syndrome;    22q11.2 deletion;   

DOI  :  10.1590/S1415-47572007000100006

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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