RESUMO
Fanconi anemia is a recessive genetic disorder with a wide range of presenting symptoms, from multiple congenital defects to exclusively (pan) cytopenia. Scapula alata may be a rare symptom of FA.
RESUMO
BACKGROUND: Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in maintaining long-term haematopoietic stem cell function. Inappropriate activation of EVI1, usually due to a translocation, is a well known and unfavourable change in several myeloid malignancies. It is not known whether haploinsufficiency of any of these genes leads to disease in humans. METHODS: SNP array analysis in a patient with in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia RESULTS AND CONCLUSIONS: We report for the first time a constitutional deletion encompassing the EVI1 and MDS1 genes in a human, and argue that the deletion causes congenital bone marrow failure in this patient.
Assuntos
Anemia Aplástica/genética , Cromossomos Humanos Par 3/genética , Proteínas de Ligação a DNA/genética , Proto-Oncogenes/genética , Deleção de Sequência/genética , Trombocitopenia/congênito , Trombocitopenia/genética , Fatores de Transcrição/genética , Adulto , Anemia Aplástica/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Proteína do Locus do Complexo MDS1 e EVI1 , Masculino , Polimorfismo de Nucleotídeo Único/genética , GravidezRESUMO
Bleeding complications in children may be caused by disorders of secondary hemostasis or fibrinolysis. Characteristic features in medical history and physical examination, especially of hemophilia, are palpable deep hematomas, bleeding in joints and muscles, and recurrent bleedings. A detailed medical and family history combined with a thorough physical examination is essential to distinguish abnormal from normal bleeding and to decide whether it is necessary to perform diagnostic laboratory evaluation. Initial laboratory tests include prothrombin time and activated partial thromboplastin time. Knowledge of the classical coagulation cascade with its intrinsic, extrinsic, and common pathways, is useful to identify potential defects in the coagulation in order to decide which additional coagulation tests should be performed.