chromosomal abnormality
Faulty cellular blueprint
A chromosomal abnormality is any deviation from the normal number or structure of chromosomes—the DNA-containing structures in cells that carry genetic information.
Extra or missing chromosomes cause conditions like Down syndrome (an extra chromosome 21) or Turner syndrome (a missing X chromosome).
Structural abnormalities include deletions, duplications, or rearrangements of chromosome segments.
Such abnormalities can cause developmental disorders, birth defects, or miscarriage, though some have no noticeable effect.
- geneticRelating to heredity
- genetic disorderAbnormality in inherited code
- mutationPermanent DNA alteration
- trisomyThree chromosomes, not two
- Down syndromeThird chromosome 21 present
karyotype · deletion · translocation · birth defect · developmental delay · amniocentesis · diagnosis · risk factor · inherited · congenital · syndrome · cell division · meiosis · DNA · screening · blood test · ultrasound · miscarriage
chromosome, chromosomes, chromosomal, chroma, chromatic, achromatic, polychromatic, monochromatic, chromaticity