TY - GEN AU - Gardner, Mckinlay R. J. AU - Grant R. Sutherland AU - Lisa G. Shaffer AU - Amor, David J. TI - Gardner and Sutherland's chromosome abnormalities and genetic counseling SN - 9780199329007 U1 - WV270 PY - 2018/// CY - New York, NY : PB - Oxford University Press, KW - Genetic counseling KW - Chromosome Aberrations KW - Human chromosome abnormalities - Patients - Counseling of N1 - 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 ER -