RESUMO
Analysis of sperm aneupoidy in 11 healthy men using two- or three-color FISH permitted to determine the average frequency of disomy in chromosomes 13 and 21 (0.11% and 0.2%, respectively), disomy in chromosome 18 (0.05%) and reveal gonosomal aneuploidy variants and their frequency. The frequency of XX disomy was 0.04%; XY, 0.17%; YY, 0.06%; and gonosomal nullisomy, 0.29%. We also assessed the frequency of meiotic nondisjunction of chromosomes 13, 21, 18, X, and Y and the frequency of XX, XY, and YY diploid chromosomes in sperm. The XY variant prevailed in gonosomal aneuploidy and diploidy and was associated with abnormal chromosomal segregation in meiotic anaphase I. The contribution of human sperm chromosomal imbalance to early embryonic lethality and to some chromosomal diseases of syndrome type in the offspring is discussed.
Assuntos
Aneuploidia , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Espermatozoides , Adulto , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
In this report, we describe two patients with idiopathic hypereosinophilic syndrome (HES) who received a non-myeloablative allogeneic transplantation following a reduced-intensity preparative regimen of melphalan and fludarabine. In both cases, complete donor chimaerism and remission were achieved, and have lasted for more than 10 months. This report provides proof of principle for the feasibility of non-myeloablative transplantation for patients with idiopathic HES, who can show co-morbidity due to eosinophilic infiltration of their organs.
