Chromosome abnormality - Wikipedia
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA.
Chromosome Abnormalities Fact Sheet - National Human …
2020年8月15日 · There are many types of chromosome abnormalities. However, they can be organized into two basic groups: numerical abnormalities and structural abnormalities. Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair, the condition is called monosomy.
Genetics, Chromosome Abnormalities - StatPearls - NCBI Bookshelf
2023年4月24日 · A chromosomal abnormality, or chromosomal aberration, is a disorder characterized by a morphological or numerical alteration in single or multiple chromosomes, affecting autosomes, sex chromosomes, or both.
Chromosomal Abnormalities: What Is It?, Types, & Causes
2019年5月17日 · Chromosomal abnormalities are changes to the number or structure of chromosomes that can lead to birth defects or other health disorders. Slight alterations to genes on the chromosomes may produce new traits such as bigger claws that may be beneficial to survival. However, they can also have detrimental effects.
CHROMOSOMAL ABNORMALITIES - Understanding Genetics - NCBI Bookshelf
2009年7月8日 · Many types of chromosomal abnormalities exist, but they can be categorized as either numerical or structural. Numerical abnormalities are whole chromosomes either missing from or extra to the normal pair. Structural abnormalities are when part of an individual chromosome is missing, extra, switched to another chromosome, or turned upside down.
Chromosomal disorder | Causes, Symptoms & Treatment
chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems, and caused by abnormal chromosome number or constitution. Normally, humans have 46 chromosomes arranged in 23 pairs; the pairs vary in size and shape and are numbered by convention.
Chromosomal Abnormalities - News-Medical.net
2023年6月22日 · Chromosomal abnormalities, alterations and aberrations are at the root of many inherited diseases and traits. Chromosomal abnormalities often give rise to birth defects and...
Chromosomal Abnormalities - Understanding Genetics - NCBI Bookshelf
2010年2月17日 · Chromosomal abnormalities may be either numerical or structural. The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome. Most aneuploid patients have trisomy (three copies of a chromosome) instead of monosomy (single copy of a chromosome).
染色体异常概述 - 儿科学 - MSD诊疗手册专业版
染色体微阵列分析 (CMA)，也称为微阵列比较基因组杂交 (aCGH)比较基因组杂交技术是一种单步技术，可以进行整个基因组的染色体剂量异常，包括增加（复制）或减少（删除），这些结果提示也可能存在不平衡易位。 单核苷酸多态性（SNP）微阵列分析还具有额外的检测纯合子区域的能力，这在父母拥有共同祖先的情况下出现（近亲），也可能出现在单亲二体 （即一对染色体的两个副本，或一个染色体的一部分，从一个父母继承，而不是从母亲和父亲各继承一个副本）的情况 …
Medical Genetics: How Chromosome Abnormalities Happen
Chromosomes are stick-shaped structures in the middle (nucleus) of each cell in the body. Each cell has 46 chromosomes grouped in 23 pairs. When a chromosome is abnormal, it can cause health problems in the body. Abnormal chromosomes most often happen as a result of an error during cell division.