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Chromosome abnormalities and genetic...
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Gardner, R. J. M.
Chromosome abnormalities and genetic counseling
紀錄類型:
書目-語言資料,印刷品 : 單行本
作者:
GardnerR. J. M.,
其他作者:
SutherlandGrant R.,
其他作者:
ShafferLisa G.,
出版地:
Oxford
出版者:
Oxford University Press;
出版年:
c2012
版本:
4th ed.
面頁冊數:
xiv, 634 p.ill. : 27 cm.;
集叢名:
Oxford monographs on medical genetics
標題:
Genetic counseling -
標題:
Human chromosome abnormalities - Patients -
標題:
Chromosome Aberrations -
標題:
Genetic Counseling -
ISBN:
9780195375336
內容註:
Basic concepts Elements of medical cytogenetics Chromosome analysis Origins and consequences of chromosome pathology Deriving and using a risk figure Parent with a chromosomal abnormality ALutosomal reciprocal translocations Sex chromosome translocations Robertsonian translocations Centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, and jumping translocations Inversions Insertions Autosomal ring chromosomes Complex rearrangements Parental sex chromosome aneuploidy Parental autosomal aneuploidy Fragile X syndromes Variants Variant chromosomes and abnormalities of no phenotypic consequence Copy number changes Normal parents with a chromosomally abnormal child Down syndrome, other full aneuploidies, and polyploidy Structural rearrangements Chromosomal disorders of sex development Chromosome instability syndromes Disorders associated with aberrant genomic imprinting Uniparental disomy and disorders of imprinting Reproductive failure Gametogenesis and conception, pregnancy loss and infertility Prenatal diagnosis Parental age counseling and screening for fetal trisomy Prenatal diagnostic procedures Preimplantation genetic diagnosis Chromosome abnormalities detected at prenatal diagnosis Noxious agents Gonadal cytogenic damage from exposure to extrinsic agents Ideograms of human chromosomes, and haploid autosomal lengths Cytogenetic abbreviations and nomenclature Determining 95 percent confidence limits and the standard error.
Chromosome abnormalities and genetic counseling
Gardner, R. J. M.
Chromosome abnormalities and genetic counseling
/ R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer - 4th ed.. - Oxford : Oxford University Press, c2012. - xiv, 634 p. ; ill. ; 27 cm.. - (Oxford monographs on medical genetics ; no. 61).
Basic concepts.
Includes bibliographical references and index.
ISBN 9780195375336ISBN 0195375335
Genetic counselingHuman chromosome abnormalitiesChromosome AberrationsGenetic Counseling -- Patients
Sutherland, Grant R.
Chromosome abnormalities and genetic counseling
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Origins and consequences of chromosome pathology
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Deriving and using a risk figure
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ALutosomal reciprocal translocations
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Sex chromosome translocations
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Robertsonian translocations
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Centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, and jumping translocations
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Inversions
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Insertions
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Autosomal ring chromosomes
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Complex rearrangements
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Parental sex chromosome aneuploidy
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Parental autosomal aneuploidy
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Fragile X syndromes
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Variants
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Variant chromosomes and abnormalities of no phenotypic consequence
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Copy number changes
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Normal parents with a chromosomally abnormal child
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Down syndrome, other full aneuploidies, and polyploidy
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Structural rearrangements
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Chromosomal disorders of sex development
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Chromosome instability syndromes
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Disorders associated with aberrant genomic imprinting
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Uniparental disomy and disorders of imprinting
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Reproductive failure
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Gametogenesis and conception, pregnancy loss and infertility
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Prenatal diagnosis
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Parental age counseling and screening for fetal trisomy
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Prenatal diagnostic procedures
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Preimplantation genetic diagnosis
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Chromosome abnormalities detected at prenatal diagnosis
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Noxious agents
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Gonadal cytogenic damage from exposure to extrinsic agents
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Ideograms of human chromosomes, and haploid autosomal lengths
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Cytogenetic abbreviations and nomenclature
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Determining 95 percent confidence limits and the standard error.
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Patients
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到館:2013/04/15
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編目:2013/04/10
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