ABSTRACT

Background

Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000–150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris coloboma related to a mosaicism of cat eye syndrome.

Methods

A complete ophthalmological and systemic evaluation was performed in a three-year-old male. He also underwent a standard karyotype and FISH analysis with a probe against the 22q11.2 locus.

Results

The ophthalmological and systemic evaluation revealed a unilateral iris coloboma and ipsilateral auricular malformations. Karyotype analysis of blood leukocytes indicated the presence of a marker chromosome in 6% of the analyzed cells. FISH analysis showed three positive signals in 5.5% of the analyzed nucleus.

Conclusion

This patient presented two of the three classic manifestations of CES; interestingly, they were unilateral. The 22q11 duplication was identified by standard karyotype and confirmed with FISH. The present case demonstrates the importance of conducting a multidisciplinary approach in patients with congenital malformations associated with known syndromes.

中文翻译：

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单侧虹膜缺损儿童的马赛克猫眼综合征

摘要

背景

猫眼综合征 (CES) 是一种罕见的染色体疾病，已知的发病率为每 50,000-150,000 名活新生儿中有 1 人。40% 的患者存在虹膜缺损、肛门直肠畸形和耳廓异常三联征。此外，可能存在其他眼部畸形和全身缺陷。本报告的目的是介绍一名与猫眼综合征嵌合体相关的单侧虹膜缺损患者。

方法

对一名三岁男性进行了完整的眼科和全身评估。他还使用针对 22q11.2 基因座的探针进行了标准核型和 FISH 分析。

结果

眼科和全身评估显示单侧虹膜缺损和同侧耳廓畸形。血液白细胞的核型分析表明在 6% 的分析细胞中存在标记染色体。FISH 分析在 5.5% 的分析细胞核中显示了三个阳性信号。

结论

该患者出现了三种典型的 CES 表现中的两种；有趣的是，他们是单方面的。22q11 重复由标准核型鉴定并用 FISH 确认。本病例证明了对与已知综合征相关的先天性畸形患者进行多学科方法的重要性。