The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. We report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes. Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.

中文翻译：

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6p染色体部分缺失导致儿童发育迟缓和轻度畸形：分子和发育调查和文献检索

间质性 6p22.3 缺失涉及罕见的染色体事件，影响身体和心理发育的许多方面。该综合征的特征是 6 号染色体的部分缺失，这可能以多种方式出现。我们报告了一名 2.8 岁男孩，表现为发育迟缓和轻度畸形。高分辨率寡核苷酸微阵列分析以高精度揭示了 6p22.3 区域中包含 13 个基因的 2.5 Mb 间质 6p 缺失。对表现出该综合征轻度特征的病例的识别和深入分析将加深我们对 6p22.3 缺失遗传谱的理解。