
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. R.j. Mckinlay Gardner, David J. Amor. Preceded By Chromosome Abnormalities And Genetic Counseling / R.j. Mckinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. C2012. Includes Bibliographical References And Index. Electronic Reproduction. Ipswich, Ma Available Via World Wide Web.
This text investigates the clinical implications of chromosomal abnormalities and the methodologies required for effective genetic counseling. Authored by R.J. McKinlay Gardner and David J. Amor, the book synthesizes complex cytogenetic data to provide a framework for risk assessment and diagnostic interpretation. It serves as a technical resource for medical professionals navigating the intersection of chromosome pathology and patient care.
What You Will Find
Scope Limits
Experts recognize this work as a foundational reference for medical geneticists and counselors due to its rigorous technical detail. Readers frequently note the high density of the prose, which is intended for practitioners rather than a general audience.
Page Count:
0
Publication Date:
1900-01-01
Publisher:
Oxford University Press,
ISBN-10:
0190871644
ISBN-13:
9780190871642
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