一名患有染色体t(18;22)(q12.2;p11.2) 重排的婴儿出现胸腺缺陷。
Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.
作者信息
Bowen P, Pabst H, Berry D, Collins-Nakai R, Hoo J J
出版信息
Clin Genet. 1986 Feb;29(2):174-7. doi: 10.1111/j.1399-0004.1986.tb01245.x.
Abstract
The finding of an unbalanced t(18;22)pat chromosome rearrangement in a boy with multiple anomalies including apparent absence of the thymus is described. The observation is of interest because of the reported association of chromosome 22 rearrangements with the DiGeorge sequence. In contrast to previous reports of this association, the deletion involving chromosome 22 is confined to the short arm.
摘要
本文描述了在一名患有多种异常（包括明显无胸腺）的男孩中发现不平衡的t(18;22)pat染色体重排。由于已报道22号染色体重排与迪格奥尔格序列相关，该观察结果具有重要意义。与此前关于这种关联的报道不同，涉及22号染色体的缺失仅限于短臂。
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