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首页> 外文期刊>European journal of human genetics: EJHG >CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
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CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

机译：CGH和镶嵌结构染色体异常的直接诊断：镶嵌环染色体17的描述和文献综述。

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We report the characterisation of a de novo supernumerary chromosome marker in a mosaic state (50%) by comparative genomic hybridisation (CGH) in an 8-year-old child with hypotonia, dysmorphia and mild-to-moderate mental retardation. We describe the combined use of CGH and fluorescence in situ hybridisation (FISH) to identify the origin of the additional chromosomal material. Visual analysis of 10 CGH-metaphase spreads revealed a gain of green fluorescent signal on pericentromeric region of chromosome 17. The CGH finding was confirmed by FISH analysis using a whole chromosome 17 paint, a chromosome 17 centromeric probe and the probe coding for the Smith-Magenis locus in 17p11.2. These results show that performing both CGH and FISH in combination with classical karyotyping will certainly allow the identification of imbalanced chromosome rearrangements and, by the way, allow the identification of genes involved in mental retardation and/or malformative pathology.European Journal of Human Genetics (2003) 11, 452-456. doi:10.1038/sj.ejhg.5200984
机译：我们报告了通过比较基因组杂交（CGH）在一个患有肌张力低下，畸形和轻度至中度智力低下的8岁儿童中处于镶嵌状态（50％）的从头新生染色体标记的特征。我们描述了结合使用CGH和荧光原位杂交（FISH）来识别其他染色体材料的起源。视觉分析了10个CGH中期扩散，发现在17号染色​​体的着丝粒附近区域获得了绿色荧光信号。通过FISH分析，使用完整的17号染色​​体漆料，17号染色​​体着丝粒探针和编码Smith- Magenis轨迹位于17p11.2。这些结果表明，同时进行CGH和FISH与经典核型分析相结合，无疑将有助于鉴定失衡的染色体重排，并允许鉴定与智力低下和/或畸形病理有关的基因。《欧洲人类遗传学杂志》（ 2003）11，452-456。 doi：10.1038 / sj.ejhg.5200984

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