| A | B |
| Cytogenetics | Science of imaging chromosomes |
| Karyotype | Image of chromosome pairs |
| Amniocentesis | Taking cells from fluid around fetus |
| Chorionic Villi Sampling | Taking cells from fetal tissue near placenta |
| Telomeres | Repetitive DNA regions at ends of chromosomes |
| Metacentric | Centromere lie near center |
| Submetacentric | Centromere closer to one end |
| Acrocentric | Centromere very near one end |
| Banding | Chromosome markings shown by staining |
| Autosomes | Chromosome sets 1-22 |
| Sex Chromosomes | Chromosome set 23 |
| p arm | Short chromosome arm |
| q arm | Long chromosome arm |
| Trisomy 21 | Down syndrome |
| 45, X | Turner syndrome |
| 47, XXY | Klinefelter syndrome |
| Translocation | Parts exchanged between chromosomes |
| Deletion | Part of a chromosome is lost |
| Duplication | Chromosome segment is repeated |
| Inversion | Chromosome segment is reversed |