Contents:

Elements of medical cytogenetics --
Chromosome analysis --
The origins and consequences of chromosome pathology --
Deriving and using a risk figure --
Autosomal reciprocal translocations --
Sex chromosome translocations --
Robertsonian translocations --
Insertions --
Inversions --
Complex chromosomal rearrangements --
Autosomal ring chromosomes --
Rare conditions : centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis --
Down syndrome, other full aneuploidies, polyploidy, and the influence of parental age --
Autosomal structural rearrangements : deletions and duplications --
Sex chromosome aneuploidy and structural rearrangement --
Chromosome instability syndromes --
Normal chromosomal variation --
Uniparental disomy and disorders of imprinting --
Reproductive failure --
Prenatal testing procedures --
Chromosome abnormalities detected at prenatal diagnosis --
Preimplantation genetic diagnosis --
Chromosomal disorders of sex development --
Gonadal cytogenetic damage from exposure to extrinsic agents