Abstract：
BACKGROUND: Genome Mapping Technologies (optical and electronic) use ultra-high molecular weight DNA to detect structural variation and have application in constitutional genetic disorders, hematological neoplasms, and solid tumors. Genome mapping can detect balanced and unbalanced structural variation, copy number changes, and haplotypes. The technique is analogous to chromosomal microarray analysis, although genome mapping has the added benefit of being able to detect and ascertain the nature of more abnormalities in a single assay than array, karyotyping, or FISH alone.
CONCLUSIONS: This paper describes a specific nomenclature for genome mapping that can be used by diagnostic and research centers to report their findings accurately. An international nomenclature is essential for patient results to be understood by different healthcare providers as well as for clear communication in publications and consistency in databases.
CONCLUSIONS: Genome mapping can detect aneuploidy, balanced and unbalanced structural variation, as well as copy number changes. The Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) recognised there was a need for a specific nomenclature for genome mapping that encompasses the range of abnormalities detected by this technique. This paper explains the general principles of the nomenclature as well as giving specific ISCN examples for the different types of numerical and structural rearrangements.
CONCLUSIONS: This paper describes a specific nomenclature for genome mapping that can be used by diagnostic and research centers to report their findings accurately. An international nomenclature is essential for patient results to be understood by different healthcare providers as well as for clear communication in publications and consistency in databases.
CONCLUSIONS: Genome mapping can detect aneuploidy, balanced and unbalanced structural variation, as well as copy number changes. The Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) recognised there was a need for a specific nomenclature for genome mapping that encompasses the range of abnormalities detected by this technique. This paper explains the general principles of the nomenclature as well as giving specific ISCN examples for the different types of numerical and structural rearrangements.
摘要：
背景：基因组作图技术（光学和电子）使用超高分子量DNA来检测结构变异，并在体质遗传疾病中具有应用，血液肿瘤,和实体瘤。基因组作图可以检测平衡和不平衡的结构变异，拷贝数更改,和单倍型。该技术类似于染色体微阵列分析，虽然基因组作图具有额外的好处，能够检测和确定更多的异常的性质在一个单一的测定比阵列，核型分析,或单独的鱼。
结论：本文描述了基因组作图的特定命名法，可用于诊断和研究中心准确报告其发现。国际命名法对于不同的医疗保健提供者理解患者结果以及出版物中的清晰沟通和数据库中的一致性至关重要。
结论：基因组作图可以检测非整倍体，平衡和不平衡的结构变化，以及拷贝数的变化。国际人类细胞基因组命名法系统（ISCN）常设委员会认识到，需要一种特定的基因组图谱命名法，该命名法涵盖了通过这种技术检测到的异常范围。本文解释了命名法的一般原理，并为不同类型的数值和结构重排给出了具体的ISCN示例。
结论：本文描述了基因组作图的特定命名法，可用于诊断和研究中心准确报告其发现。国际命名法对于不同的医疗保健提供者理解患者结果以及出版物中的清晰沟通和数据库中的一致性至关重要。
结论：基因组作图可以检测非整倍体，平衡和不平衡的结构变化，以及拷贝数的变化。国际人类细胞基因组命名法系统（ISCN）常设委员会认识到，需要一种特定的基因组图谱命名法，该命名法涵盖了通过这种技术检测到的异常范围。本文解释了命名法的一般原理，并为不同类型的数值和结构重排给出了具体的ISCN示例。
