Literature DB >> 6702898

Ring chromosome 14 and immunoglobulin locus.

M Krawczun, G Melink, J Cervenka.   

Abstract

A 2.5-yr-old girl was evaluated for seizurelike episodes and psychomotor and growth retardation. Cytogenetic study showed a ring 14 chromosome in most cells, with some cells having monosomy 14. Rarely, a cell showed a double ring chromosome 14. Both parents had normal chromosomes. Because serum immunoglobulins have been mapped to the distal portion of 14q, we attempted to correlate Ig levels with the deletion involved in the formation of this ring. No decrease in IgG, IgM, IgA, IgE, and IgD serum levels was observed. The normal serum Ig levels found in the proposita are compatible with the suggestion that the Ig loci are not located on the terminal portion of 14q but more proximally in band 14q32. However, because Gm and Am allotyping was not available mapping was not conclusive.

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Year:  1984        PMID: 6702898     DOI: 10.1002/ajmg.1320170209

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

Review 1.  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Authors:  Berardo Rinaldi; Alessandro Vaisfeld; Sergio Amarri; Chiara Baldo; Giuseppe Gobbi; Pamela Magini; Erto Melli; Giovanni Neri; Francesca Novara; Tommaso Pippucci; Romana Rizzi; Annarosa Soresina; Laura Zampini; Orsetta Zuffardi; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123

  1 in total

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