Ring chromosome 14 and immunoglobulin locus
作者： M. Krawczun , G. Melink , J. Cervenka , John M. Opitz
关键词: Locus (genetics) 、 Immunoglobulin D 、 Biology 、 Monosomy 14 、 Immunoglobulin E 、 Ring chromosome 、 Chromosome 、 Molecular biology 、 Gene mapping 、 Antibody
摘要: A 2.5-yr-old girl was evaluated for seizurelike episodes and psychomotor growth retardation. Cytogenetic study showed a ring 14 chromosome in most cells, with some cells having monosomy 14. Rarely, cell double Both parents had normal chromosomes. Because serum immunoglobulins have been mapped to the distal portion of 14q, we attempted correlate Ig levels deletion involved formation this ring. No decrease IgG, IgM, IgA, IgE, IgD observed. The found proposita are compatible suggestion that loci not located on terminal 14q but more proximally band 14q32. However, because Gm Am allotyping available mapping conclusive.
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