The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation‐dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.

中文翻译：

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颅面小儿的基因组失衡

本研究的目的是对临床诊断为颅面小体症 (CFM) 的个体进行 22q11.2 缺失筛查和染色体微阵列分析 (CMA)，并回顾先前发表的基因组失衡的 CFM 病例。它包括由临床遗传学家评估的 54 个人。通过对所有个体的多重连接依赖性探针扩增 (MLPA) 研究 22q11.2 区域中的拷贝数变异 (CNV)。CMA 仅针对具有其他主要特征的个体进行。MLPA 在 3/54 (5.6%) 个体的 22q11 区域发现了致病性 CNV。CMA 在 4/17 (23.5%) 个体中发现了致病性 CNV，包括 MLPA 也检测到的 22q11 区域的三个 CNV，以及在 4/17 (23.5%) 个体中被归类为未知意义变异 (VOUS) 的 CNV。在 2p12、5p15、13q13 和 22q11 区域发现了致病性改变。在 3q29、5q22.2、5q22.1 和 9p22 区域发现了 VOUS。所有具有致病性改变的个体都呈现出额外的主要特征，包括先天性心脏病 (CHD)。文献回顾揭示了 17/193 (8.8%) 个体的致病性 CNV，其中大多数还表现出额外的主要特征，如 CHD、肾脏异常或发育迟缓。总之，应在 CFM 和其他主要特征的患者中研究 CNV。8%) 个体，其中大多数还表现出额外的主要特征，例如 CHD、肾脏异常或发育迟缓。总之，应在 CFM 和其他主要特征的患者中研究 CNV。8%) 个体，其中大多数还表现出额外的主要特征，例如 CHD、肾脏异常或发育迟缓。总之，应在 CFM 和其他主要特征的患者中研究 CNV。