Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corroborate and expand these findings, we report on two novel syndromic male patients with 9p13 deletions suffering from a similar form of tremor and compare them with literature data. Despite genomic variability in deletion sizes, all patients displayed homogeneous dysmorphism and clinical manifestations, including very invalidating tremor. Furthermore, we outlined a region of around 2 Mb shared in common by all patients with nearly 70 genes, among which NPR2 might have a role in the phenotype. These data delineate interstitial 9p13 deletion syndrome with tremor as a major feature.

中文翻译：

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震颤是9p13缺失综合征的主要特征。

仅在少数发育迟缓，中度智力障碍，颅面畸形，身材矮小，生殖器异常和性早熟的患者中描述了9p13染色体的近端间质缺失。为了证实和扩大这些发现，我们报道了两名患有9p13缺失且患有类似震颤形式的新型综合征男性患者，并将其与文献数据进行了比较。尽管缺失大小的基因组变异，所有患者均表现出同质异型和临床表现，包括非常无效的震颤。此外，我们概述了所有具有近70个基因的患者共有2 Mb的共同区域，其中NPR2可能在表型中起作用。这些数据描述了以震颤为主要特征的间质性9p13缺失综合征。