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Título :	DEB Test for Fanconi Anemia Detection in Patients with Atypical Phenotypes
Creador:	Esmer C
Nivel de acceso:	Open access
Palabras clave :	Anemia aplásica - diagnóstico Anemia aplasica - genética Estudios de casos Rotura cromosomica Diagnóstico Diferencial Compuestos epoxi Atresia Esofágica - etiología Anemia de Fanconi - complicaciones Anemia de Fanconi - diagnóstico Anemia Fanconi - genética Pruebas Genéticas - métodos Mutágenos Fenotipo Pronóstico Fístula Traqueoesofágica - etiología Anemia, Aplastic - Diagnosis Anemia, Aplastic - Genetics Case - Control Studies Chromosome Breakage Diagnosis, Differential Epoxy Compounds Esophageal Atresia - Etiology Fanconi Anemia - Complications Fanconi Anemia - Diagnosis Fanconi Anemia - Genetics Female Genetic Testing - Methods Humans Male Mutagens Phenotype Prognosis Tracheoesophageal Fistula - Etiology Anemia de Fanconi Rotura cromosómica Prueba de diepoxibutano Anomalías congénitas VACTERL Fanconi anemia chromosome breakage diepoxybutane test congenital anomalies VACTERL
Descripción :	Pancytopenia, hyperpigmentation, small stature, congenital abnormalities, and pre-disposition to neoplasia characterize Fanconi anemia (FA). The clinical phenotype is extremely variable, therefore the diagnosis is frequently delayed until the pancytopenia appears, making diagnosis difficult on the basis of clinical manifestations alone. Hypersensitivity of FA cells to the clastogenic effect of diepoxybutane (DEB) provides a unique marker for the diagnosis before the beginning of hematological manifestations. Our aim in this study was to detect FA in children with atypical manifestations to define which conditions should be routinely included in the DEB test screening. We performed the chromosomal breakage test in 34 patients with probable FA and 83 patients with clinical conditions that could suggest FA, but are not usually screened by the DEB test: 20 patients with aplastic anemia, 20 patients with VACTERL association, 20 with radial ray abnormalities, 7 with tracheo-esophageal fistulae, 12 with anal atresia, and 4 with myelodysplastic syndrome. We found 18 DEB-positive patients: 12 were in the group of probable FA and 6 in the other groups. Among the last ones: three were included because of aplastic anemia, without any other sign of FA, however when re-examined, other anomalies were detected. The third patient had anal atresia, renal hypoplasia, pre-axial polydactyly, and normal blood cell counts and was diagnosed as having VACTERL association. The other two patients lacking physical or hematological signs were identified among the group of radial ray abnormalities. Thus, our results highlight the need to increase the number of abnormalities indicating need for a DEB test. Delay in the diagnosis of FA may have serious consequences for the patients and their family members. © 2003 Wiley-Liss, Inc.
Colaborador(es) u otros Autores:	Sánchez S Ramos S Molina B Frias S Carnevale A
Fecha de publicación :	2004
Tipo de publicación:	Artículo
Formato:	pdf
Fuente:	American Journal of Medical Genetics 124 A(1):35 - 39
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2250
Idioma:	eng
Aparece en las colecciones:	Artículos

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