WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established. The congenital aniridia is caused, in nearly 90% of cases by mutations in the gene PAX6. In the face of congenital aniridia, it is imperative to specify whether it falls within the scope of a WAGR syndrome or if it is an isolated congenital aniridia or inherited by performing karyotype, FISH (Fluorescence In Situ Hybridization) or a CGH array for genetic counseling. We report here a case of genetic testing for newborn with aniridia, to detect 11p13 rearrangements, using karyotyping and CGH array to complete picture of the chromosomal deletions and breakpoints in aniridia. Results show either a loss of 3811.196 kb on chromosome 11 delimited by the bands p14.1 and p13 with formula or a loss of a 1867.287 kb on chromosome 18 fragment delimited by q21.33 and q22.1 bands, that has not been detected by karyotype analysis. Cytogenetics screening is a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a better identification of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns to improve survival and quality of life for affected individuals.

中文翻译：

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摩洛哥 WAGR 综合征患者的常规和分子细胞遗传学特征

WAGR 综合征是一种罕见的遗传性疾病，其特征是 11p13 从头缺失，临床上通常与肾母细胞瘤、无虹膜、泌尿生殖系统异常和智力低下 (WAGR) 相关。尽管 WAGR 综合征的基因型缺陷已得到充分证实。近 90% 的先天性无虹膜是由 PAX6 基因突变引起的。面对先天性无虹膜，必须明确是否属于WAGR综合征的范围，还是孤立性先天性无虹膜或通过核型、FISH（荧光原位杂交）或CGH芯片进行遗传咨询而遗传的。 。我们在此报告一例对患有无虹膜的新生儿进行基因检测的案例，以检测 11p13 重排，使用核型分析和 CGH 阵列来完整了解无虹膜的染色体缺失和断点。结果显示，由 p14.1 和 p13 条带界定的 11 号染色体上 3811.196 kb 的丢失，或由 q21.33 和 q22.1 条带界定的 18 号染色体片段上 1867.287 kb 的丢失，这尚未通过核型分析。细胞遗传学筛查是无虹膜及相关综合征基因诊断的良好策略，可以更好地识别断点。我们的结果强调了对无虹膜患者（尤其是新生儿）的染色体重排进行详尽而准确的分析对于提高受影响个体的生存率和生活质量的临床重要性。