Intermediate interstitial deletions of the long arm of chromosome 1 are typically associated with developmental delay and dysmorphic features. We describe the case of a 31-year-old male with intellectual disability, obesity and dysmorphic features, in whom array-comparative genomic hybridization identified a de novo 9.55 Mb deletion at 1q31.2q32.1. We discuss the genes encompassed within the deleted region; in particular, the implications of the deleted cancer-predisposing gene, CDC-73, and compare our clinical findings to other cases with similar deletions. The absence of microcephaly and growth retardation appears to differentiate more proximal interstitial 1q deletions from intermediate 1q deletions, and the presence of obesity is a newly reported phenotype within the 1q deletion spectrum. It is imperative that surveillance for CDC-73 related disorders, including parathyroid carcinoma, is considered in the management of interstitial intermediate 1q deletions.

中文翻译：

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具有智力障碍，畸形特征和肥胖的成年男性的染色体1q31.2q32.1缺失。

1号染色体长臂的中间间隙缺失通常与发育延迟和畸形特征相关。我们描述了一个具有智力残疾，肥胖和畸形特征的31岁男性的病例，在该病例中，阵列比较基因组杂交在1q31.2q32.1处鉴定了从头9.55 Mb缺失。我们讨论了缺失区域中包含的基因；特别是，删除了易患癌症的基因CDC-73的含义，并将我们的临床发现与其他类似删除的病例进行了比较。小头畸形和生长迟缓的缺乏似乎可以将更多的近端组织间质1q缺失与中间1q缺失区分开，肥胖的存在是1q缺失谱中新近报道的表型。