一名核型为45,XX,-3,-22,+der(3),t(3;22)(p25;q11)的儿童的22q11.2微缺失综合征特征
Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).
作者信息
Faed M J, Robertson J, Beck J S, Cater J I, Bose B, Madlom M M
出版信息
J Med Genet. 1987 Apr;24(4):225-7. doi: 10.1136/jmg.24.4.225.
Abstract
A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.
摘要
本文描述了一名患有不平衡易位的儿童，该易位导致22号染色体（q11----pter）和3号染色体（p25----pter）单体性。尽管未发现免疫功能障碍，但所发现的异常与Di George综合征中所见的异常相似，后者与22号染色体相同区域的单体性有关。
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