INTRODUCTION Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different breakpoints encompassing a critical region on the short arm of chromosome 5, located between p15.2 and p15.3, first defined by Niebuhr in 1978. The classic phenotype includes a characteristic cry, peculiar facies, microcephaly, growth retardation, hypotonia, speech and psychomotor delay and intellectual disability. A wide spectrum of clinical manifestations can be attributed to differences in size and localization of the 5p deletion. Several critical regions related to some of the main features (such as cry, peculiar facies, developmental delay) have been identified. The aim of this study is to further define the genotype-phenotype correlations in CdCS with particular regards to the specific neuroradiological findings. PATIENTS AND METHODS Fourteen patients with 5p deletions have been included in the present study. Neuroimaging studies were conducted using brain Magnetic Resonance Imaging (MRI). Genetic testing was performed by means of comparative genomic hybridization (CGH) array at 130 kb resolution. RESULTS MRI analyses showed that isolated pontine hypoplasia is the most common finding, followed by vermian hypoplasia, ventricular anomalies, abnormal basal angle, widening of cavum sellae, increased signal of white matter, corpus callosum anomalies, and anomalies of cortical development. Chromosomal microarray analysis identified deletions ranging in size from 11,6 to 33,8 Mb on the short arm of chromosome 5. Then, we took into consideration the overlapping and non-overlapping deleted regions. The goal was to establish a correlation between the deleted segments and the neuroradiological features of our patients. CONCLUSIONS Performing MRI on all the patients in our cohort, allowed us to expand the neuroradiological phenotype in CdCS. Moreover, possible critical regions associated to characteristic MRI findings have been identified.

中文翻译：

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Cri-du-Chat 综合征的结构性脑异常：14 名患者的 MRI 结果和可能的基因型-表型相关性

简介 Cri-du-Chat Syndrome (CdCS) 是一种遗传状况，由于缺失显示不同的断点，包括位于 p15.2 和 p15.3 之间的 5 号染色体短臂上的一个关键区域，由 Niebuhr 于 1978 年首次定义。经典表型包括特征性哭闹、特殊面容、小头畸形、生长迟缓、肌张力减退、言语和精神运动迟缓以及智力障碍。广泛的临床表现可归因于 5p 缺失的大小和定位差异。已经确定了与一些主要特征（例如哭声、特殊面容、发育迟缓）相关的几个关键区域。本研究的目的是进一步定义 CdCS 中的基因型-表型相关性，特别是在特定的神经放射学发现方面。患者和方法 本研究包括 14 名 5p 缺失患者。使用脑磁共振成像 (MRI) 进行神经影像学研究。基因检测通过分辨率为 130 kb 的比较基因组杂交 (CGH) 阵列进行。结果 MRI 分析显示孤立性脑桥发育不全是最常见的表现，其次是蠕虫发育不全、心室异常、基底角异常、鞍腔增宽、白质信号增强、胼胝体异常和皮质发育异常。染色体微阵列分析确定了 5 号染色体短臂上大小从 11,6 到 33,8 Mb 不等的缺失。然后，我们考虑了重叠和非重叠的删除区域。目标是在删除的片段与我们患者的神经放射学特征之间建立相关性。结论 对我们队列中的所有患者进行 MRI 检查，使我们能够扩展 CdCS 的神经放射学表型。此外，已经确定了与特征性 MRI 发现相关的可能关键区域。