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环状14号染色体与免疫球蛋白基因座

Ring chromosome 14 and immunoglobulin locus.

作者信息

Krawczun M, Melink G, Cervenka J

出版信息

Am J Med Genet. 1984 Feb;17(2):465-9. doi: 10.1002/ajmg.1320170209.

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.

摘要

一名2.5岁女童因癫痫样发作、精神运动发育迟缓和生长发育迟缓接受评估。细胞遗传学研究显示,大多数细胞中有一条14号环状染色体,部分细胞存在14号染色体单体。极少情况下,一个细胞显示为双环状14号染色体。父母双方染色体均正常。由于血清免疫球蛋白已定位于14q的远端部分,我们试图将免疫球蛋白水平与该环状染色体形成过程中涉及的缺失相关联。未观察到血清IgG、IgM、IgA、IgE和IgD水平降低。先证者血清免疫球蛋白水平正常,这与免疫球蛋白基因座并非位于14q末端部分而是更靠近14q32带的近端这一推测相符。然而,由于无法进行Gm和Am别型分析,定位并不确定。

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