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首页> 美国卫生研究院文献>Balkan Journal of Medical Genetics : BJMG >A Novel de Novo Paracentric Inversion inv(20)(q13.1q13.3) Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability
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A Novel de Novo Paracentric Inversion inv(20)(q13.1q13.3) Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability

机译：新型de novo超中心反转inv（20）（q13.1q13.3）伴有11q14.3-q21微缺失的小儿科智障患者

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A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was not accompanied by microdeletions/microduplications containing disease-associated genes near or at the breakpoints. Two deletions at chromosomal regions 11q14.3q21 and 20q12 of 4.5 and 1.97 Mb size, respectively, containing important online Mendelian inheritance in man (OMIM) genes, were detected. The 4.5Mb 11q14.3q21 microdeletion was contained within a region that is involved, in most of the reported cases, with the interstitial 11q deletion and may be related to the mental retardation and developmental delay present in the patient. On the other hand, the published data about the 20q12 microdeletion are very few and it is not possible to correlate this finding with our patient’s phenotype. This case report contributes to the description of a new chromosomal entity, not previously reported, and is therefore important, especially in prenatal diagnosis and management of patients. Array comparative genomic hybridization has proven a useful technique for detecting submicroscopic rearrangements and should be offered prenatally, especially in cases of de novo karyotypically balanced chromosomal inversions or translocations in order to unveil other unbalanced chromosomal abnormalities such as deletions and amplifications.
机译：描述了一种新颖的从新的副中心反转染色体20 [inv（20）（q13.1q13.3）]的长臂，通过常规核型分析检测到一个14岁男孩的智力低下。通过阵列比较基因组杂交（aCGH）的进一步研究表明，20q倒置并没有伴随着在断点附近或在断点处包含与疾病相关的基因的微缺失/微重复。在染色体区域11q14.3q21和20q12的两个缺失分别为4.5和1.97 Mb，分别检测到两个重要的在线孟德尔遗传基因（OMIM）。在大多数报道的病例中，一个4.5Mb 11q14.3q21微缺失被包含在一个区域中，该区域与间质11q缺失有关，并且可能与患者存在的智力障碍和发育迟缓有关。另一方面，已发表的有关20q12微缺失的数据非常少，并且不可能将此发现与患者的表型相关联。该病例报告有助于描述以前未报道的新的染色体实体，因此非常重要，特别是在产前诊断和治疗患者中。阵列比较基因组杂交已被证明是检测亚显微重排的有用技术，应在产前提供，特别是在从头染色体核型平衡的染色体倒置或易位的情况下，以揭示其他不平衡的染色体异常，例如缺失和扩增。

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