4 documents found, page 1 of 1
Increased red cell distribution width in Fanconi anemia: a novel marker of stre...
Sousa, R.; Gonçalves, C.; Guerra, I.; Costa, E.; Fernandes, A.; Bom-Sucesso, M.; Azevedo, J.; Rodriguez, A.; Rius, R.; Seabra, C.; Ferreira, F.BACKGROUND: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the ...
Microarray in clinical practice – utility vs complexity. Mixed phenotype of dup...
Antunes, Diana; Rodrigues, M.I.; Carvalho, I.; Freixo, J.P.; Marques, B.; Pedro, S.; Kay, T.; Correia, H.; Castedo, S.; Nunes, L.Introduction: There’s a consensus to perform chromosomal microarray technique as first-tier clinical diagnostic test for individuals with developmental disabilities. However, given the complexity of clinical presentations, often several diagnostic methods are held before conducting microarray. Method: We report the case of a 5 year-old boy referred to Medical Genetics due to short stature, developmental disabil...
Classification of the dup 15q13.3 CNV: A National data collection
Sousa, A.; Serafim, S.; Santos, R.; Custódio, S.; Ávila, M.; Dupont, J.; Dias P, P.; Moldovan, O.; Melo, J.; Ferreira, S.; Pires, L.; Leão, M.; Sá, S.Introduction: The proximal region 15q11q14 is one of the most unstable regions in the human genome, with six recognizable break points (BP1-BP6). In 15q13.3 there is a recurrent small CNV (BP4-BP5) consisting of a 350-680 Kb duplication, encompassing the CHRNA7 gene, which encodes the alpha 7 subunit of the neuronal nicotinic acetylcholine receptor. Although microdeletions of CHRNA7 are known to cause intellect...
Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese fa...
Santos, L. F.; Rodrigues, B.; Moreira, D.; Correia, E.; Nunes, L.; Costa, A.; Elvas, L.; Pereira, T.; Machado, J. C.; Castedo, S.; Henriques, C.Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.