Two adult siblings with thrombocytopenia and a familial 13;14 translocation.
A woman with thrombocytopenia that progressed to aplastic anemia, and her brother, who had persistent thrombocytopenia, both had a constitutional t(13;14) translocation. Six other family members, in three generations, had the same translocation, but no hematologic disorder. There was evidence suggestive of increased chromosomal fragility in lymphocyte cultures from two members of the kindred, but not in the two patients. The findings support a postulated association between the t(13;14) and hematologic disorders, but whether the mechanism involves an inherited defect in chromosomal stability is unproved.
D002873:Chromosome Fragility; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013922:Thrombocytosis / Q000235:genetics*; D014178:Translocation, Genetic