Abstract：
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia and dysmorphisms. The correlation of haploinsufficiency of genes outside the CR to specific signs contributes to our knowledge of the effect of the deletion of this gene-poor region of chromosome 12q. This work underlines the still important role of copy number variations in the diagnostic setting of syndromic patients and the positive reflection on management and family genetic counseling.
摘要：
12号染色体长臂的间质缺失很少见，据报道，有12名患者在12q21中携带缺失。最近，一个临界区域（CR）已被划定，可能是更常见的临床特征的原因。如发育迟缓/智力障碍，先天性泌尿生殖系统和脑畸形。Other,不太频繁,临床体征似乎与建议的CR无关.我们介绍了7名新患者，这些患者的非复发性缺失范围为1至18.5Mb，差异分布在12q21中。除了更常见的临床症状，一些患者有更罕见的特征，如心脏缺陷，听力损失,张力减退和畸形。CR外部基因的单倍体不足与特定体征的相关性有助于我们了解染色体12q的该基因贫乏区域缺失的影响。这项工作强调了拷贝数变化在综合征患者的诊断环境中仍然重要的作用，以及对管理和家庭遗传咨询的积极反映。
