Chromosome abnormality

A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA.^[1]^[2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene.^[3] Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant.^[4] A mother's age is one of the many environmental factors that might lead to genetic abnormalities. The implications of chromosomal abnormalities depend on the specific problem, they may have quite different ramifications. Some examples are Down syndrome and Turner syndrome.

^ "Chromosomal Abnormalities", Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals, Genetic Alliance, 2009-07-08, retrieved 2023-09-27
^ NHGRI. 2006. Chromosome Abnormalities Archived 2006-09-25 at the Wayback Machine
^ Rieger, R., Michaelis, A., Green, M.M. (1968). "Mutation". A glossary of genetics and cytogenetics: Classical and molecular. New York: Springer-Verlag. ISBN 978-0-387-07668-3.
^ Chen H (2006). Atlas of genetic diagnosis and counseling. Totowa, N.J: Humana Press. ISBN 978-1-58829-681-8.

[1] "Chromosomal Abnormalities", Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals, Genetic Alliance, 2009-07-08, retrieved 2023-09-27

[2] NHGRI. 2006. Chromosome Abnormalities Archived 2006-09-25 at the Wayback Machine

[3] Rieger, R., Michaelis, A., Green, M.M. (1968). "Mutation". A glossary of genetics and cytogenetics: Classical and molecular. New York: Springer-Verlag. ISBN 978-0-387-07668-3.

[4] Chen H (2006). Atlas of genetic diagnosis and counseling. Totowa, N.J: Humana Press. ISBN 978-1-58829-681-8.

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