Microdeletions in the 9q22.3 chromosomal region can cause macrosomia with characteristic features, including prenatal-onset overgrowth, metopic craniosynostosis, hydrocephalus, developmental delay, and intellectual disability, in addition to manifestations of nevoid basal cell carcinoma syndrome (NBCCS). Haploinsufficiency of PTCH1 may be responsible for accelerated overgrowth, but the mechanism of macrosomia remains to be elucidated. We report a familial case with a 9q22.3 microdeletion, manifesting with prenatal-onset overgrowth in a mother and post-natal overgrowth in her daughter. Although both were clinically diagnosed with NBCCS, they had characteristic features of 9q22.3 microdeletion, especially the daughter. Microarray comparative genomic hybridization analysis revealed a 4.0 Mb deletion of chromosome 9q22.3 in both individuals. Among the 11 reported patients of overgrowth and/or macrosomia, a 550 Kb region encompassing PTCH1, C9orf3, FANCC, and 5 miRNAs is the most commonly deleted region. The let-7 family miRNAs, which are involved in diverse cellular processes including growth and tumor processes, were identified in the deleted regions in 10 of 11 patients. Characteristic features of 9q22.3 microdeletion might be associated with decreased expression of let-7.

9q22.3染色体区域中的微缺失可导致具有特征性的巨大儿，包括产前发作性过度生长，异位性颅突狭窄，脑积水，发育迟缓和智力残疾，以及空洞性基底细胞癌综合征（NBCCS）的表现。PTCH1的单倍不足可能是造成过度生长的原因，但巨大的机理尚待阐明。我们报告了一个家族性病例，其微缺失为9q22.3，表现为母亲的产前发病过度增长和女儿的产后过度增长。尽管两者均在临床上被诊断出患有NBCCS，但它们具有9q22.3微缺失的特征，尤其是女儿。微阵列比较基因组杂交分析显示两个个体中染色体9q22.3的4.0 Mb缺失。在11名报道的过度生长和/或巨人症患者中，一个550 Kb区域包括PTCH1，C9orf3，FANCC，5个miRNA是最常见的缺失区域。在11名患者中的10名患者的缺失区域中鉴定了let-7家族miRNA，这些miRNA参与了包括生长和肿瘤过程在内的各种细胞过程。9q22.3微缺失的特征可能与let-7的表达降低有关。