Grigori Panagiota, Panayiotou Elena, Sismani Carolina, Koumbaris George, Ioannides Marios, Costalos Christos, Kosmaidou-Aravidou Zoe, Kousoulidou Ludmila, Patsalis Philippos C
Alexandra Hospital, Department of Genetics, Athens, Greece.
Eur J Med Genet. 2011 May-Jun;54(3):365-8. doi: 10.1016/j.ejmg.2011.02.006. Epub 2011 Feb 24.
We report on a 9-month old boy carrying a 21 Mb de novo 13q interstitial deletion. The imbalance was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization (FISH) and Comparative Genomic Hybridization (array-CGH) using two different platforms: a BAC microarray with 516 kb resolution (Cytochip) and a 15 kb resolution oligonucleotide microarray (Agilent 244K). The deletion has been estimated to span 21.46 Mb on chromosomal bands 13q22.2-13q32.1. The patient has mild/moderate psychomotor retardation, growth hormone insufficiency, hypertelorism, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Further investigation revealed that the abnormality is de novo and causative of the patient's phenotype. The described patient is unique among similar rare cases with different deletion breakpoints. It is the first case of 13q22.2q32.1 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes.
我们报告了一名9个月大的男孩，其携带一个21 Mb的新发13号染色体间质性缺失。该染色体不平衡通过染色体分析检测到，并使用两种不同平台的荧光原位杂交（FISH）和比较基因组杂交（阵列比较基因组杂交，array-CGH）进行研究：一种分辨率为516 kb的细菌人工染色体（BAC）微阵列（细胞芯片）和一种分辨率为15 kb的寡核苷酸微阵列（安捷伦244K）。据估计，该缺失在13号染色体带13q22.2 - 13q32.1上跨度为21.46 Mb。该患者有轻度/中度精神运动发育迟缓、生长激素缺乏、眼距过宽、短颈、小颌畸形、肌张力低下、耳部发育异常及其他畸形特征。进一步调查显示，该异常是新发的，且是患者表型的病因。在具有不同缺失断点的类似罕见病例中，所描述的该患者是独特的。这是第一例13q22.2q32.1缺失且断点明确的病例，表明详细的临床描述和高分辨率基因组分析对于罕见遗传综合征特征化的重要性。
