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This manual offers detailed protocols for fluorescence in situ hybridization (FISH) and comparative genomic hybridization approaches, which have been successfully used to study various aspects of genomic behavior and alterations. Methods using different probe and cell types, tissues and organisms, such as mammalians, fish, amphibians (including lampbrush-chromosomes), insects, plants and microorganisms are described in 57 chapters. In addition to multicolor FISH procedures and special applications such as the characterization of marker chromosomes, breakpoints, cryptic aberrations, nuclear architectures and epigenetic changes, as well as comparative genomic hybridization studies, this 2nd edition describes how FISH can be combined with other techniques. The latter include immunostaining, electron microscopy, single cell electrophoresis and microdissection. This well-received application guide provides essential protocols for beginning FISHers and FISH experts alike working in the fields of human genetics, microbiology, animal and plant sciences.

Cytology. --- Human genetics. --- Cell Biology. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Cell biology --- Cellular biology --- Biology --- Cells --- Cytologists

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Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to

Genetics --- Genetics. --- Variation (Biology) --- Biological variation --- Biology --- Heredity --- Mutation (Biology) --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes

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Histology. Cytology --- Human genetics --- Semiology. Diagnosis. Symptomatology --- Gynaecology. Obstetrics --- medische laboratoriumtechnologie --- medische genetica --- genetica --- cytologie --- vroedkunde

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Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.

Genetics

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Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Genetic disorders. --- Human cytogenetics. --- Medical genetics. --- Medical genetics --- Human cytogenetics --- Genetic disorders --- Study Characteristics --- Pathologic Processes --- Mutation --- Genetic Diseases, Inborn --- Congenital Abnormalities --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Genetic Variation --- Publication Characteristics --- Pathological Conditions, Signs and Symptoms --- Genetic Phenomena --- Diseases --- Phenomena and Processes --- Case Reports --- Chromosome Aberrations --- Chromosome Disorders --- Medicine --- Biology --- Health & Biological Sciences --- Pathology --- Genetics --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Cytogenetics, Human --- Clinical genetics --- Heredity of disease --- Genetic aspects --- Medicine. --- Human genetics. --- Cytogenetics. --- Laboratory medicine. --- Reproductive medicine. --- Biomedicine. --- Human Genetics. --- Reproductive Medicine. --- Laboratory Medicine. --- Cytogenetics --- Human genetics --- Medical sciences