Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

中文翻译：

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10p15.3p13区大缺失新生儿一例临床报告及文献复习

10p 染色体末端缺失是一种罕见的染色体异常。我们报告了一例由于严重的临床表现而早期诊断出的 10p15.3p13 大量缺失的新生儿病例。我们的患者表现出特定的面部特征、甲状旁腺功能减退、神经性耳聋、肾脏异常和发育迟缓，并在 10p15.3 p13 区域携带 12.6 Mb 缺失。本例患者的 10p 末端缺失是迄今为止报告的第二大末端缺失，包括 ZMYND11 和 GATA3 基因以及 DiGeorge 综合征 2 基因 (DGS2) 的部分关键区域。根据文献综述，本病例中的这种末端 10p 缺失是导致特定连续基因综合征的原因。