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

By: Gardner, R. J. M [author.].
Contributor(s): Amor, David J [author.].
Material type: TextTextSeries: Oxford monographs on medical genetics: no. 70.Publisher: New York, NY : Oxford University Press, [2018]Edition: Fifth edition.Description: xii, 714 pages ; 27 cm.Content type: text Media type: unmediated Carrier type: volumeISBN: 9780199329007; 0199329001.Other title: Chromosome abnormalities and genetic counseling.Subject(s): Genetic counseling | Human chromosome abnormalities -- Patients -- Counseling of | Genetic counselingDDC classification: 616/.042 Online resources: Click here to access online
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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Item type Current location Call number Status Date due Barcode Course reserves
Course Reserve Course Reserve Janis P. Bellack Library
Course Reserves
GC REF 7 (Browse shelf) Available 36349000021377

Genetic Counseling Permanent

Course Reserve Course Reserve Janis P. Bellack Library
Course Reserves
GC REF 8 (Browse shelf) 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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