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Ring chromosome 14 and immunoglobulin locus

✍ Scribed by Krawczun, M. ;Melink, G. ;Cervenka, J. ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1984
Tongue: English
Weight: 308 KB
Volume: 17
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320170209

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✦ Synopsis

A 2.5-yr-old girl was evaluated for seizurelike episodes and psychomotor and growth retardation. Cytogenetic study showed a ring I4 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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