genetic abnormality
DNA sequence error
A genetic abnormality is a variation in DNA that deviates from typical patterns, often causing disease or developmental differences.
The term covers mutations, chromosomal irregularities, and inherited conditions: Down syndrome is a genetic abnormality involving an extra chromosome.
Some genetic abnormalities are harmless variations; others cause serious medical conditions.
- chromosomal disorderIllness from atypical cellular genetics
- trisomyThree chromosomes, not two
- cleft palateCongenital oral roof opening
- gene mutationChange in DNA sequence
- point mutationSingle nucleotide change in DNA
duplication · inversion · mosaicism · translocation · deletion · birth defect · sickle cell · rare disease · Down syndrome · schizophrenia · cystic fibrosis · autism spectrum disorder · obesity · missense mutation · hypertension · frameshift mutation · osteoporosis · family history
- pregnancypregnancy, pregnant, prenatal care, due date, weeks
- Pregnancy Lossmiscarriage, stillbirth, stillborn, pregnancy loss, fetal demise
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