Chromosome Abnormalities and Genetic Counseling

ISBN-10: 0195375335
ISBN-13: 9780195375336
Edition: 4th 2011
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Description: Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little  More...

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Book details

Edition: 4th
Copyright year: 2011
Publisher: Oxford University Press, Incorporated
Publication date: 11/24/2011
Binding: Hardcover
Pages: 648
Size: 7.00" wide x 10.50" long x 1.75" tall
Weight: 4.114
Language: English

Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition ofChromosome Abnormalities and Genetic Counselingdeals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.

Basic Concepts
Elements of Medical Cytogenetics
Chromosome Analysis
The Origins and Consequences of Chromosome Pathology
Deriving and Using a Risk Figure
Parent with a Chromosomal Abnormality
Autosomal 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
The 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 Cytogenetic Damage from Exposure to Extrinsic Agents
Appendixes
Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
Cytogenetic Abbreviations and Nomenclature
Determining 95 Percent Confidence Limits, and the Standard Error
References
Index

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