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Cover Art
Author Gardner, R. J. M.

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

Published Oxford ; New York : Oxford University Press, [2012]


Location Call No. Status
 UniM BioMed  616.042 GARD    AVAILABLE
 UniM BioMed  616.042 GARD    AVAILABLE
 UniM BioMed  616.042 GARD    AVAILABLE
 UniM BioMed  616.042 GARD    AVAILABLE
Edition 4th ed.
Physical description xiv, 634 pages : illustrations ; 27 cm.
Series Oxford monographs on medical genetics ; no. 61.
Oxford monographs on medical genetics ; no. 61.
Bibliography Includes bibliographical references (pages 511-618) and index.
Contents pt. ONE BASIC CONCEPTS -- 1.Elements of Medical Cytogenetics -- 2.Chromosome Analysis -- 3.The Origins and Consequences of Chromosome Pathology -- 4.Deriving and Using a Risk Figure -- pt. TWO PARENT WITH A CHROMOSOMAL ABNORMALITY -- 5.Autosomal Reciprocal Translocations -- 6.Sex Chromosome Translocations -- 7.Robertsonian Translocations -- 8.Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations -- 9.Inversions -- 10.Insertions -- 11.Autosomal Ring Chromosomes -- 12.Complex Rearrangements -- 13.Parental Sex Chromosome Aneuploidy -- 14.Parental Autosomal Aneuploidy -- 15.The Fragile X Syndromes -- pt. THREE VARIANTS -- 16.Variant Chromosomes and Abnormalities of No Phenotypic Consequence -- 17.Copy Number Changes -- pt. FOUR NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD -- 18.Down Syndrome, Other Full Aneuploidies, and Polyploidy -- 19.Structural Rearrangements --
Contents note continued: 20.Chromosomal Disorders of Sex Development -- 21.Chromosome Instability Syndromes -- pt. FIVE DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING -- 22.Uniparental Disomy and Disorders of Imprinting -- pt. SIX REPRODUCTIVE FAILURE -- 23.Gametogenesis and Conception, Pregnancy Loss and Infertility -- pt. SEVEN PRENATAL DIAGNOSIS -- 24.Parental Age Counseling and Screening for Fetal Trisomy -- 25.Prenatal Diagnostic Procedures -- 26.Preimplantation Genetic Diagnosis -- 27.Chromosome Abnormalities Detected at Prenatal Diagnosis -- pt. EIGHT NOXIOUS AGENTS -- 28.Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents -- APPENDIXES -- A.Ideograms of Human Chromosomes, and Haploid Autosomal Lengths -- B.Cytogenetic Abbreviations and Nomenclature -- C.Determining 95 Percent Confidence Limits, and the Standard Error.
Other author Sutherland, Grant R.
Shaffer, Lisa G.
Subject Genetic counseling.
Human chromosome abnormalities -- Patients -- Counseling of.
ISBN 9780195375336 (hbk. : alk. paper)
0195375335 (hbk. : alk. paper)