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PMID: 1163534 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 27 ·No. 5 ·1975-09-00 ·Pages 586-94

Kimberling WJ, Fulbeck T, Dixon L, Lubs HA

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.

MeSH Terms
Adult Child Chromosome Aberrations Chromosome Mapping Chromosomes, Human, 6-12 and X Female Genes, Dominant Genotype Humans Karyotyping Male Pedigree Phenotype Spherocytosis, Hereditary/genetics Translocation, Genetic
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Kimberling W J
Fulbeck T
Dixon L
Lubs H A
References (10)
10 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1975-09-00
Pages
586-94
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1762822
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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