01Nondisjunction
If homologs (meiosis I) or sister chromatids (meiosis II) fail to separate, gametes get an extra or missing chromosome. Fertilization then produces aneuploidy: trisomy (2n + 1) or monosomy (2n − 1).
Down syndrome = trisomy 21. Turner syndrome = XO (monosomy X). Klinefelter syndrome = XXY.
02Karyotypes and pedigrees
A karyotype shows chromosomes arranged by size and can reveal aneuploidy and large structural changes (deletions, duplications, inversions, translocations).
Polyploidy (extra full sets) is common and often beneficial in plants — wheat is hexaploid.
03Notebook box
Nondisjunction in meiosis I → all 4 gametes abnormal. In meiosis II → 2 abnormal, 2 normal.
Worked example: A karyotype shows 47 chromosomes with three copies of chromosome 21. Cause? → Nondisjunction during gamete formation.