A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. A 7-year-old female was referred for diagnosis due to gross facial dysmorphism and severe developmental delay. She presented with dysmorphic features, hypo/hyper pigmentation of the skin, intellectual disability and craniosynostosis. G-banding chromosome analysis suggested mos 46,XX,psu idic(18)(p11.2)[25]/46,XX,r(?18)[30]. Additional analysis by molecular karyotyping suggested pure partial deletion of 15 Mb on 18p (18p11.32p11.21). Lastly, multiple rearrangements and detection of a third cell line (ring chr18 and interstitial deletion) of chr18 was observed by multi-color banding. The current study presents a novel case of chromosomal abnormalities pertaining to chromosome 18 across 3 cell lines, which were delineated with a combinatorial approach of diagnostic methods.

中文翻译：

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使用三管齐下的细胞遗传学技术方法对一名畸形儿童的18号马赛克染色体异常进行描述：一例病例报告

文献中报道了异型和环状染色体18的大量病例。但是，这两种异常在个人中与第三种细胞系同时出现且没有数字异常的情况极为罕见。由于面部严重畸形和严重的发育迟缓，转诊了一名7岁女性进行诊断。她表现出畸形特征，皮肤色素沉着/过度色素沉着，智障和颅突狭窄。G带染色体分析表明，mos 46，XX，psu idic（18）（p11.2）[25] / 46，XX，r（？18）[30]。通过分子核型分析的其他分析表明，在18p（18p11.32p11.21）上纯净缺失了15 Mb。最后，通过多色条带观察到chr18的多个重排和第三细胞系的检测（环hr18和间质缺失）。