Iscn 1995

This publication combines and extends the now classic system of human cytogenetic nomenclature that has been prepared by expert committees and published in, or in collaboration with, Cytogenetics and Cell Genetics since 1963. The current ISCN committee and its advisors finalized the report at a meeting in Memphis, Tennessee in October 1994. It updates, corrects and combines all previous human cytogenetic nomenclature recommendations into one systematically organized publication. ISCN 1995 includes, supersedes, and reorganizes the previous compilation in ISCN 1985 and its supplement, ISCN 1991, the Guidelines for Cancer Cytogenetics. Also, some minor inconsistencies of the previous compilations are corrected and clarified.

This publication combines and extends the now classic system of human cytogenetic nomenclature prepared by expert committees and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics ) since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, BC, in December 2004, it updates, corrects and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication. It thus supersedes the previous compilations in ISCN 1985 and its supplement, ISCN 1991 , the Guidelines for Cancer Cytogenetics , and ISCN 1995 . What s new in ISCN 2005? the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions new ideograms at the 300-band and 700-band level have been added the in situ hybridization nomenclature has been modernized, simplified, and expanded new examples reflecting unique situations are included a basic nomenclature for recording array comparative genomic hybridization results is introduced ISCN 2005 also contains a detachable fold-out of the normal human karyotype, consisting of photographs of G-banded and R-banded chromosomes at the commonly examined 550-band resolution stage and their diagrammatic representations a useful aid for human cytogeneticists, technicians, and students.

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.

This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

This publication updates the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics) since 1963.Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, B.C., in October 2008, the ISCN 2009 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations.What is new in ISCN 2009? - New idiograms at all band levels have been revised based upon higher-resolution analysis of banded chromosomes- The neoplasia nomenclature has been revised to allow the use of idem or stemline/sideline notation to describe clonal evolution- New examples reflecting unique situations are included in most chapters- The nomenclature for microarray results has been revised to accommodate any platform and provides detailed and short systems of description- A nomenclature for MLPA results has been introduced ISCN 2009 is thus an indispensable reference for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.

Human Cytogenetics: Constitutional Analysis covers all basic aspects of human cytogenetic study other than malignancies and abnormalities. They are covered in a separate volume. Since the publication of the 2nd edition in 1992, there have been major advances in technology and the emphasis ofthis new edition is on the spectrum of technologies available to conventional and molecular cytogenetics. Perhaps the largest new development has been the transition of fluorescence in situ hybridization to an essential tool for all cytogenetecists and consequently its use in chromosome analysis iscovered in detail. Another important new technology to be described in detail is computerised image analysis. The conventional techniques have not been forgotten, with chapters on chromosome staining and banding techniques and meiotic studies. New authors have been brought in to take a fresh look atlymphocyte culture and prenatal diagnosis. As before, there is an introduction to human chromosomes, their analyses, and the application of cytogenetic investigations to clinical practice. There is also an appendix on health and safety concerns in the cytogenetics laboratory. This book will beinvaluable to any scientists using basic cytogenetics and along with its sister volume Human Cytogenetics: Malignancy and Acquired Abnormalities will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.