genetic anomalies
Inherited code errors
Genetic anomalies are deviations from typical genetic patterns—mutations, chromosomal irregularities, or inherited variations that differ from the norm.
The term covers a wide range, from harmless variations to conditions causing disease or developmental differences: Prenatal testing can detect certain genetic anomalies.
In scientific contexts, anomaly is neutral; in everyday speech, it may carry negative connotations about abnormality.
- trisomyThree chromosomes, not two
- point mutationSingle nucleotide change in DNA
- cystic fibrosisGenetic disorder thickening mucus
- fragile X syndromeGenetic cause of cognitive impairment
- chromosomal abnormalityStructural or numerical DNA error
insertion · duplication · deletion · sickle cell anemia · inversion · Tay-Sachs disease · hemophilia · Huntington's disease · translocation · Down syndrome · mutant · prenatal screening · nonsense mutation · frameshift mutation · missense mutation · inherited disorder · rare disease · amniocentesis
- Genetic SyndromesDown syndrome, fragile X syndrome, DiGeorge syndrome, BRCA1, neurofibromatosis
- embryologyembryo, zygote, embryology, blastocyst, embryogenesis
genetic anomalieslifestyle diseases
Conditions caused by behavior
infectious diseases · occupational diseases · nutritional deficiencies · parasitic infections · bacterial infections
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