Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia.
J Pediatr Hematol Oncol
; 35(7): 547-50, 2013 Oct.
Article
em En
| MEDLINE
| ID: mdl-23337544
ABSTRACT
BACKGROUND:
Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. The aim of the present study was to assess the proportion of FA cases among aplastic anemia (AA) in Tunisian pediatric patients. OBSERVATION Investigation of mitomycin C-induced chromosomal breakage was carried out in 163 pediatric patients with AA and siblings of the cases where diagnosis of FA was confirmed. We identified 31 patients with FA whose percentage of unstable mitoses ranges from 65% to 100%. Among 18 siblings who were investigated for chromosomal instability, 3 were incidentally found to be affected.CONCLUSIONS:
FA is an important cause of AA in Tunisia. Our report is the first study in North Africa that explored cytogenetic and phenotypic findings in FA children. It also showed the importance of mitomycin C sensitivity screening in all FA siblings.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Citogenética
/
Anemia de Fanconi
/
Anemia Aplástica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Tunísia