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Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

机译：猫眼综合症的严重表现中严重的精神运动延迟

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Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.
机译：猫眼综合症是染色体起源的罕见遗传综合症。猫眼综合征患者的特征是存在耳前凹坑和/或标签，肛门闭锁和虹膜结肠炎。许多报告的病例还表现为先天性异常和智力残疾。大多数被确诊为CES的患者携带一条小的双星状标记染色体，导致部分四体性为22p-22q11.21。根据断点的位置，有两种类型的小数字标记染色体。据报道，在极少数情况下，其他细胞遗传学异常与猫眼综合征表型有关。在这里，我们报告由1型小数字标记染色体引起的猫眼综合征患者。该表型是非典型的，包括严重的发育迟缓。阵列比较基因组杂交的使用排除了神经系统表型中另一个染色体失衡的参与。在文献中，只有少数患有猫眼综合症的患者出现严重的发育延迟，并且后者全部携带非典型的三体性22号染色体或未鉴定的小的数字标记染色体。因此，这是首次报告猫眼综合征具有严重的神经系统表型，并伴有典型的1型小数字标记。我们的观察结果显然使预后评估复杂化，尤其是在产前诊断出猫眼综合征时。

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