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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.
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA.
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).
20 sie 2021 · Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material. Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors.
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.
8 lip 2009 · Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus. The age of the mother and certain environmental factors may play a role in the occurrence of genetic errors.
15 sie 2020 · Chromosome abnormalities are errors in the number or structure of chromosomes, which can affect an individual's development and health. Learn about the types, causes, and effects of chromosome abnormalities, and how they are studied and diagnosed.