Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.
Significant linkage was found between spherocytosis and a translocation involving the short arms of chromosomes 8 and 12. The gene for spherocytosis, therefore, is likely either very close to the centromere of chromosome 8 or on 12p. The unusually high frequency of spontaneous abortion in this family was probably due to this translocation and was unrelated to the spherocytosis.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013103:Spherocytosis, Hereditary / Q000235:genetics*; D014178:Translocation, Genetic