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1. Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.

Author

Kimberling WJ, Fulbeck T, Dixon L, and Lubs HA

Subjects
Adult, Child, Chromosome Mapping, Female, Genes, Dominant, Genotype, Humans, Karyotyping, Male, Pedigree, Phenotype, Chromosome Aberrations, Chromosomes, Human, 6-12 and X, Spherocytosis, Hereditary genetics, Translocation, Genetic
Abstract

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.

Published
1975

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