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  1. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA.

  2. 20 sie 2021 · Genetic disorders occur when a mutation affects your genes or chromosomes. Some disorders cause symptoms at birth, while others develop over time. Genetic testing can help you learn more about the likelihood of experiencing a genetic disorder.

  3. 24 kwi 2023 · 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.

  4. Chromosomes are structures within cells that contain a person's genes. Genes are segments of deoxyribonucleic acid (DNA) and contain the code for a specific protein that functions in one or more types of cells in the body (see Genes and Chromosomes for a discussion about genetics).

  5. Chromosomal disorders are essentially disorders of the genome resulting from either loss or addition of a whole chromosome (aneuploidy) or parts of chromosomes (structural). A chromosome abnormality results in major disturbance in the genomic arrangement because each chromosome or part thereof consists of thousands of genes and several ...

  6. 18 maj 2018 · A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage ...

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