Fluorescence in situ hybridization (FISH) screening for the 22 q11. 2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
Genet. mol. biol
;
30(1): 21-24, 2007. tab
Artículo
en Inglés
| LILACS
| ID: lil-445678
ABSTRACT
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 percent). 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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Hibridación Fluorescente in Situ
/
Síndrome de Williams
/
Enfermedades de los Peces
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2007
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Faculdade de Medicina de São José do Rio Preto/BR
/
Universidade de São Paulo/BR
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