Bibframe Work

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.