RESUMO
We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations--short stature, sterility, and hypoplasic anemia with several years of evolution-who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12-21q31-q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 1/genética , Anemia de Fanconi/genética , Adulto , Medula Óssea/patologia , Análise Citogenética , Humanos , Masculino , Troca de Cromátide IrmãRESUMO
Analysis of meiotic chromosomes from two human male translocation heterozygotes is reported. One had total sterility after maturation arrest and chain configurations at meiosis, and the second had a abnormal children who were presumed to be genetically unbalanced.
