Gonzales Patrick R, Carroll Andrew J, Korf Bruce R
Cytogenetics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Curr Protoc Hum Genet. 2016 Apr 1;89:8.1.1-8.1.13. doi: 10.1002/0471142905.hg0801s89.
Chromosome analysis is one of the first approaches to genetic testing and remains a key component of genetic analysis of constitutional and somatic genetic disorders. Numerical or unbalanced structural chromosome abnormalities usually lead to multiple congenital anomalies. Sometimes these are compatible with live birth, usually resulting in severe cognitive and physical handicaps; other times they result in miscarriage or stillbirth. Chromosome rearrangements also occur as somatic changes in malignancies. Identification of constitutional chromosomal anomalies (anomalies present in most or all cells of the body and/or the germline) can provide important information for genetic counseling. In this unit, we introduce chromosomal microarray analysis (CMA), which is a relatively recent addition to cytogenetic technologies, and has become the recommended first-tier testing method for patients with developmental delay, intellectual disability, autism, and/or multiple congenital anomalies. We also discuss non-invasive prenatal testing/screening (NIPTS), which uses circulating cell-free fetal DNA (cfDNA) from maternal plasma to rapidly screen for autosomal and sex-chromosome aneuploidies. Cytogenetic analysis of tumors is helpful in diagnosis and in monitoring the effects of treatment. The protocols in this chapter cover the clinical study of chromosomes in nonmalignant tissues.
染色体分析是基因检测的首要方法之一，并且仍然是先天性和体细胞遗传病基因分析的关键组成部分。染色体数目异常或结构不平衡通常会导致多种先天性畸形。有时这些情况与活产相容，通常会导致严重的认知和身体残疾；其他时候则会导致流产或死产。染色体重排也会作为恶性肿瘤中的体细胞变化而出现。鉴定先天性染色体异常（存在于身体大多数或所有细胞和/或生殖系中的异常）可为遗传咨询提供重要信息。在本单元中，我们介绍染色体微阵列分析（CMA），这是细胞遗传学技术中较新的一项技术，已成为发育迟缓、智力残疾、自闭症和/或多种先天性畸形患者推荐的一线检测方法。我们还将讨论无创产前检测/筛查（NIPTS），它利用母体血浆中循环的游离胎儿DNA（cfDNA）快速筛查常染色体和性染色体非整倍体。肿瘤的细胞遗传学分析有助于诊断和监测治疗效果。本章中的方案涵盖非恶性组织中染色体的临床研究。
