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Gardner and Sutherland's chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, David J. Amor.

By: Contributor(s): Material type: TextTextSeries: Oxford monographs on medical genetics ; no. 70.Publisher: New York, NY : Oxford University Press, [2018]Edition: Fifth editionDescription: xii, 714 pages ; 27 cmContent type:
  • text
Media type:
  • unmediated
Carrier type:
  • volume
ISBN:
  • 9780199329007
  • 0199329001
Other title:
  • Chromosome abnormalities and genetic counseling
Subject(s): DDC classification:
  • 616/.042 23
LOC classification:
  • RB155.7 .G37 2018
NLM classification:
  • 2018 E-881
  • QS 677
Online resources:
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.
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Holdings
Item type Current library Call number Status Date due Barcode Course reserves
Course Reserve Course Reserve Janis P. Bellack Library Course Reserves GC REF 7 (Browse shelf(Opens below)) Available 36349000021377

Genetic Counseling Permanent

Course Reserve Course Reserve Janis P. Bellack Library Course Reserves GC REF 8 (Browse shelf(Opens below)) Available 36349000021369

Genetic Counseling Permanent

Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.

Includes bibliographical references and index.

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.

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