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首页> 外文期刊>American journal of medical genetics, Part A >Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
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Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

机译：基于阵列的比较基因组杂交技术可帮助识别智障儿童的新型der（1）t（1; 18）（p36.3; q23）dn断点。

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Monosomy of distal 1p36 represents the most common terminal deletion in humans and results in one of the most frequently diagnosed mental retardation syndromes. This deletion is considered a contiguous gene deletion syndrome, and has been shown to vary in deletion sizes that contribute to the spectrum of phenotypic anomalies seen in patients with monosomy 1p36. We report on an 8-year-old female with characteristics of the monosomy 1p36 syndrome who demonstrated a novel der(1)t(1;18)(p36.3;q23). Initial G-banded karyotype analysis revealed a deleted chromosome 1, with a breakpoint within 1p36.3. Subsequent FISH and array-based comparative genomic hybridization not only confirmed and partially characterized the deletion of chromosome 1p36.3, but also uncovered distal trisomy for 18q23. In this patient, the duplicated 18q23 is translocated onto the deleted 1p36.3 region, suggesting telomere capture. Molecular characterization of this novel der(1)t(1;18)(p36.3;q23), guided by our clinical array-comparativegenomic hybridization, demonstrated a 3.2 Mb terminal deletion of chromosome 1p36.3 and a 200 kb duplication of 18q23 onto the deleted 1p36.3, presumably stabilizing the deleted chromosome 1. DNA sequence analysis around the breakpoints demonstrated no homology, and therefore this telomere capture of distal 18q is apparently the result of a non-homologous recombination. Partial trisomy for 18q23 has not been previously reported. The importance of mapping the breakpoints of all balanced and unbalanced translocations found in the clinical laboratory, when phenotypic abnormalities are found, is discussed.
机译：远端1p36的单体性代表了人类中最常见的末端缺失，并导致了最常被诊断的智力低下综合征之一。这种缺失被认为是连续的基因缺失综合症，并且已经显示出缺失大小的变化，这些变化有助于在1p36号单体患者中看到的表型异常。我们报告了一位8岁女性，该女性具有1s36单体综合征的特征，该女性表现出一种新颖的der（1）t（1; 18）（p36.3; q23）。最初的G带核型分析显示1号染色体缺失，断裂点在1p36.3之内。随后的FISH和基于阵列的比较基因组杂交不仅证实并部分表征了1p36.3号染色体的缺失，而且还揭示了18q23的远端三体性。在该患者中，重复的18q23易位到缺失的1p36.3区域，提示端粒被捕获。在我们临床比较阵列基因组杂交的指导下，这种新型der（1）t（1; 18）（p36.3; q23）的分子表征证明了1p36.3染色体的3.2 Mb末端缺失和18q23的200 kb复制到缺失的1p36.3上，大概稳定了缺失的染色体1.断裂点周围的DNA序列分析表明没有同源性，因此，远端18q的这种端粒捕获显然是非同源重组的结果。先前尚未报道18q23的部分三体性。当发现表型异常时，讨论了映射在临床实验室中发现的所有平衡和非平衡易位的断点的重要性。

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