Chromosome Abnormalities and Genetic Counseling

by McKinlay Gardner, R.J.M; Sutherland, Grant R; Shaffer, Lisa G.

• ISBN13: 9780195375336
• ISBN10: 0195375335
• Edition: 4th
• Format: Hardcover
• Copyright: 2011-11-11
• Publisher: Oxford University Press

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 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.

Author Biography

Lisa G. Shaffer is President of Signature Genomic Laboratories. R.J. McKinlay Gardner is a Consultant Medical Geneticist at Northern Regional Genetic Service at Auckland City Hospital. Grant R. Sutherland is an Emeritus Geneticist at Women's and Children's Hospital in Adelaide, Australia.

Table of Contents

Basic Concepts
Elements of Medical Cytogenetics	p. 3
Chromosome Analysis	p. 21
The Origins and Consequences of Chromosome Pathology	p. 27
Deriving and Using a Risk Figure	p. 59
Parent with a Chromosomal Abnormality
Autosomal Reciprocal Translocations	p. 67
Sex Chromosome Translocations	p. 112
Robertsonian Translocations	p. 140
Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations	p. 155
Inversions	p. 161
Insertions	p. 183
Autosomal Ring Chromosomes	p. 201
Complex Rearrangements	p. 212
Parental Sex Chromosome Aneuploidy	p. 221
Parental Autosomal Aneuploidy	p. 233
The Fragile X Syndromes	p. 242
Variants
Variant Chromosomes and Abnormalities of No Phenotypic Consequence	p. 257
Copy Number Changes	p. 269
Normal Parents with a Chromosomally Abnormal Child
Down Syndrome, Other Full Aneuploidies, and Polyploidy	p. 277
Structural Rearrangements	p. 295
Chromosomal Disorders of Sex Development	p. 333
Chromosome Instability Syndromes	p. 341
Disorders Associated with Aberrant Genomic Imprinting
Uniparental Disomy and Disorders of Imprinting	p. 351
Reproductive Failure
Gametogenesis and Conception, Pregnancy Loss and Infertility	p. 377
Prenatal Diagnosis
Parental Age Counseling and Screening for Fetal Trisomy	p. 403
Prenatal Diagnostic Procedures	p. 417
Preimplantation Genetic Diagnosis	p. 426
Chromosome Abnormalities Detected at Prenatal Diagnosis	p. 439
Noxious Agents
Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents	p. 489
Appendixes
Ideograms of Human Chromosomes, and Haploid Autosomal Lengths	p. 499
Cytogenetic Abbreviations and Nomenclature	p. 505
Determining 95 Percent Confidence Limits, and the Standard Error	p. 510
References	p. 511
Index	p. 619
Table of Contents provided by Ingram. All Rights Reserved.