Chromosome Abnormalities and Genetic Counseling

by Gardner, R. J. McKinlay; Sutherland, Grant R.

• ISBN13: 9780195149609
• ISBN10: 0195149602
• Edition: 3rd
• Format: Hardcover
• Copyright: 2003-08-28
• Publisher: Oxford University Press

Summary

Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to geneticcounselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. Thebook will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.

Author Biography

Dr. R. J. McKinlay Gardner has been a practicing clinical geneticist for 30 years, presently with Genetic Health Services Victoria in Melbourne, Australia, and has a special interest in chromosomal conditions. Prof. Grant R. Sutherland has recently stepped aside as Director of the Cytogenetics and Molecular Genetics Department at the Women's and Children's Hospital, Adelaide, Australia. He made signal contributions to research on fragile sites and the fragile X syndrome in particular, and was President of HUGO in 1996-1997

Table of Contents

Basic Concepts
Elements of medical cytogenetics	p. 3
The origins and consequences of chromosome pathology	p. 21
Deriving and using a risk figure	p. 50
Parent with a Chromosomal Abnormality
Autosomal reciprocal translocations	p. 59
Sex chromosome translocations	p. 98
Robertsonian translocations	p. 122
Centromere fissions, complementary isochromosomes, and telomeric fusions	p. 138
Inversions	p. 142
Insertions	p. 163
Autosomal ring chromosomes	p. 178
Complex rearrangements	p. 186
Parental sex chromosome aneuploidy	p. 195
Parental autosomal aneuploidy	p. 210
The fragile X syndromes	p. 218
Variant chromosomes and abnormalities of no phenotypic consequence	p. 233
Normal Parents with a Chromosomally Abnormal Child
Down syndrome, other full aneuploidies, and polyploidy	p. 249
Structural rearrangements	p. 264
The XY female, the XX male, and the true hermaphrodite	p. 294
Chromosome instability syndromes	p. 301
Disorders Associated with Aberrant Genomic Imprinting
Uniparental disomy and disorders of imprinting	p. 311
Reproductive Failure
Gametogenesis and conception, pregnancy loss, and infertility	p. 339
Prenatal Diagnosis
Parental age counseling and screening for fetal trisomy	p. 363
Prenatal diagnostic procedures	p. 373
Preimplantation genetic diagnosis	p. 381
Chromosome abnormalities detected at prenatal diagnosis	p. 392
Noxious Agents
Gonadal cytogenetic damage from exposure to extrinsic agents	p. 435
Appendices
Ideograms of human chromosomes and haploid autosomal lengths	p. 447
Cytogenetic abbreviations and nomenclature	p. 452
Determining 95 percent confidence limits and the standard error	p. 456
References	p. 457
Index	p. 557
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