Congenital Abnormality
chromosome disorder
Subclass of:
Genetic Diseases, Inborn; Congenital Abnormality
Definitions related to congenital chromosomal disease:
  • (chromosome disorder) A disorder that results from a chromosomal abnormality.
    NCI
    U.S. National Cancer Institute, 2021
  • (chromosome disorders) Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes (X and Y).
    Merck Manuals
    Merck & Co., Inc., 2025
  • 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....
    Encyclopedia Britannica
    Encyclopedia Britannica, Inc., 2025
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