PDF(Pubmed)
Abstract：
UNASSIGNED: Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome.
UNASSIGNED: To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines.
UNASSIGNED: A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions.
UNASSIGNED: This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.
UNASSIGNED: To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines.
UNASSIGNED: A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions.
UNASSIGNED: This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.
摘要：
染色体2上的拷贝数变异(CNV)与多种人类疾病特别是神经发育障碍相关。阵列比较基因组杂交(aCGH)构成了诊断神经发育或神经精神疾病的附加价值。本研究旨在建立基因型-表型相关性,报告2号染色体上的CNV，有助于更好地表征该染色体中稀有CNV的分子意义。
■要做到这一点，我们使用医学院遗传学系数据库中的遗传信息和医院数据库中的临床数据进行了横断面研究.CNV被归类为致病性的，良性,未知意义的变异，可能是致病性的或良性的，符合ACMG标准和指南。
■使用aCGH对2897名患者进行了研究，32号染色体上的CNVs被分类为可能致病，8为致病性。发病率较高的基因组间隔是一个2p25.3和2q13区域。
■这项研究将有助于建立新的基因型-表型相关性，允许数据库和文献的更新以及诊断和遗传咨询的改进，这可能是产前遗传咨询的附加价值。
■要做到这一点，我们使用医学院遗传学系数据库中的遗传信息和医院数据库中的临床数据进行了横断面研究.CNV被归类为致病性的，良性,未知意义的变异，可能是致病性的或良性的，符合ACMG标准和指南。
■使用aCGH对2897名患者进行了研究，32号染色体上的CNVs被分类为可能致病，8为致病性。发病率较高的基因组间隔是一个2p25.3和2q13区域。
■这项研究将有助于建立新的基因型-表型相关性，允许数据库和文献的更新以及诊断和遗传咨询的改进，这可能是产前遗传咨询的附加价值。
