Chromosome abnormalities and genetic counseling /

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Bibliographic Details
Author / Creator:	Gardner, R. J. M.
Edition:	4th ed.
Imprint:	Oxford ; New York : Oxford University Press, ©2012.
Description:	1 online resource (xiv, 634 pages) : illustrations
Language:	English
Series:	Oxford monographs on medical genetics ; no. 61 Oxford monographs on medical genetics ; no. 61.
Subject:	Genetic counseling. Human chromosome abnormalities -- Patients -- Counseling of. Chromosome Aberrations. Genetic Counseling. Genetic counseling. Electronic books.
Format:	E-Resource Book
URL for this record:	http://pi.lib.uchicago.edu/1001/cat/bib/11301624

Hidden Bibliographic Details
Other authors / contributors:	Sutherland, Grant R. Shaffer, Lisa G.
ISBN:	9780199749157 0199749159 1283427060 9781283427067 9780195375336 0195375335 0199975175 9780199975174 9786613427069 6613427063
Digital file characteristics:	data file
Notes:	Includes bibliographical references and index. Print version record.
Summary:	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 of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the con.
Other form:	Print version: Gardner, R.J.M. Chromosome abnormalities and genetic counseling. 4th ed. Oxford ; New York : Oxford University Press, ©2012 9780195375336

Table of Contents:

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.

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