Principles of Clinical Cytogenetics (eBook)

Steven L. Gersen, Martha B. Keagle (Herausgeber)

eBook Download: PDF

2008 | 2nd ed. 2005
XIII, 596 Seiten
Humana Press (Verlag)
978-1-59259-833-5 (ISBN)

Infos

In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday's news, were once again 'back in style. ' Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew-that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.

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In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday's news, were once again "e;back in style. "e; Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew-that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.

Inhalt

Section I. Basic Concepts and Background

History of Clinical Cytogenetics
Steven L. Gersen

DNA, Chromosomes, and Cell Division
Martha B. Keagle

Human Chromosome Nomenclature: An Overview and Definition of Terms
Avirachan Tharapel

Section II. Examining and Analyzing Chromosomes

Editors' Foreword
Steven L. Gersen and Martha B. Keagle

Basic Laboratory Procedures
Martha B. Keagle and Steven L. Gersen

The Fundamentals of Microscopy
Christopher McAleer

Quality Control and Quality Assurance
Michael Watson and Steven L. Gersen

Instrumentation in the Cytogenetics Laboratory
Steven L. Gersen and Lotte Downey

Section III. Clinical Cytogenetics

Autosomal Aneuploidy
Jin-Chen C. Wang

Structural Chromosome Rearrangements
Kathleen Kaiser-Rogers and Kathleen Rao

Sex Chromosomes and Sex Chromosome Abnormalities
Cynthia M. Powell

Cytogenetics of Infertility
Linda Marie Randolph

Prenatal Cytogenetics
Linda Marie Randolph

Cytogenetics of Spontaneous Abortion
Solveig M. V. Pflueger

Chromosome Instability
Xiao-Xiang Zhang

Section IV Cancer Cytogenetics

Cytogenetics of Hematologic Neoplasms
Rizwan C. Naeem

Cytogenetics of Solid Tumors
Jonathan A. Fletcher

Section V. Fluorescence In Situ Hybridization

Fluorescence In Situ Hybridization (FISH)
Daynna J. Wolff and Stuart Schwartz

Section VI. Beyond Chromosomes

Editors' Foreword
Steven L. Gersen and Martha B. Keagle

Fragile X: From Cytogenetics to Molecular Genetics
Dana C. Crawford and Patricia N. Howard-Peebles

Genomic Imprinting and Uniparental Disomy
Jin-Chen C. Wang

Genetic Counseling
Sarah Hutchings Clark

Index

Produkt-Details

• Erscheint lt. Verlag: 17.8.2008
• Zusatzinfo: XIII, 596 p.
• Verlagsort: Totowa
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete
• Themenwelt: Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
• Themenwelt: Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
• Schlagworte: cell division • Chromosom • DNA • fish • Fluoreszenz in situ-Hybridisierung • Genetics • Hybridization • Microscopy
• ISBN-10: 1-59259-833-1 / 1592598331
• ISBN-13: 978-1-59259-833-5 / 9781592598335