The chromosome 8q21.11 deletion syndrome is an extremely rare genetic condition characterized by facial dysmorphic features, Peters anomaly and impaired intellectual development. We report a case of a 2-year-old female with chromosome 8q21.11-q21.2 microdeletion complicated by T-cell lymphoblastic lymphoma. Whole genome single-nucleotide polymorphism microarray detected an interstitial deletion of 8q21.11 to q.21.2, including 16 genes. Autopsy findings revealed a T-cell lymphoblastic lymphoma presenting as an anterior mediastinal mass, encroaching upon the aortic arch, left subclavian artery, left carotid bifurcation and trachea. The genes that may contribute to a neoplastic process are identified (PKIA,, IL7, TPD52, PAG1, and FABP5) and discussed in this article.

中文翻译：

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染色体 8q21.11 微缺失患者的 T 细胞淋巴母细胞淋巴瘤。


染色体 8q21.11 缺失综合征是一种极其罕见的遗传性疾病，其特征是面部畸形、Peters 异常和智力发育受损。我们报告一例 2 岁女性染色体 8q21.11-q21.2 微缺失并发 T 细胞淋巴母细胞淋巴瘤的病例。全基因组单核苷酸多态性微阵列检测到8q21.11至q.21.2的间质缺失，包括16个基因。尸检结果显示，T 细胞淋巴母细胞淋巴瘤表现为前纵隔肿块，侵犯主动脉弓、左锁骨下动脉、左颈动脉分叉处和气管。本文鉴定并讨论了可能促进肿瘤形成过程的基因（PKIA、IL7、TPD52、PAG1 和 FABP5）。