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首页> 外文期刊>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：一种新的Novo ParaceCration反演[INV（20）（Q13.1Q13.3）]伴随着具有智力残疾的儿科患者11q14.3-q21微术

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摘要

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 re-arrangements 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：描述了染色体长臂的新型剖腹产术反演，由常规核型观察到有精神迟滞的14岁男孩检测到的常规核型观察到。通过阵列进行进一步调查比较基因组杂交（ACGH）揭示了20Q反转不伴随含有近邻或断裂点的疾病相关基因的微缺失性/微扫描。检测到染色体区域的两次缺失，分别检测到4.5和1.97 MB大小的4.5和1.97 MB的大小，在人（OMIM）基因中含有重要的在线孟德尔遗传。在涉及的区域内，在大多数报道的病例中含有4.5MB 11QQ14.3℃的微缺失性，间质11Q缺失，并且可能与患者中存在的智力延迟和发育延迟有关。另一方面，关于20Q12微缺失的已发表的数据很少，并且不可能与我们的患者的表型相关联。本案例报告有助于描述新的染色体实体，并未报告，因此重要，特别是在患者的产前诊断和管理中。阵列比较基因组杂交已经证明了一种用于检测亚微微镜的重新安排的有用技术，并且应该在Novo核型平衡染色体反转或转移的情况下，以揭示其他不平衡染色体异常，例如缺失和扩增的情况。

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