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This FISH application guide provides an overview of the principles and the basic techniques of fluorescence in situ hybridization (FISH) and primed in situ hybridization (PRINS), which are successfully used to study many aspects of genomic behavior and alterations. In 36 chapters, contributed by international experts in their particular field, the nowadays multiple approaches and applications of the powerful techniques are presented and detailed protocols are given. Described here are methods using various cell types and tissues as well as different organisms, such as mammalians, insects, plants and microorganisms. Multicolor FISH procedures and special applications such as the characterization marker chromosomes, breakpoints, cryptic aberrations, nuclear architecture and epigenetic changes, as well as (array-based) comparative genomic hybridization studies are presented. Overall, the technique of choice is introduced for single cell analysis in human genetics, microbiology, animal and plant sciences.

Fluorescence in situ hybridization. --- Genetics. --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- FISH (Fluorescence in situ hybridization) --- Fluorescent in situ hybridization --- Fluorescence microscopy --- In situ hybridization

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Cytogenetics. --- Cytology --- Genetics --- Human genome. --- Genomes --- Human chromosomes

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Biological techniques --- General embryology. Developmental biology --- Histology. Cytology --- Molecular biology --- Human genetics --- Gynaecology. Obstetrics --- voortplanting (mensen) --- biologische technieken --- medische genetica --- genetica --- cytologie --- embryologie (geneeskunde) --- vroedkunde --- histologie --- moleculaire biologie

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This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Histology. Cytology --- Human genetics --- Semiology. Diagnosis. Symptomatology --- Pathological biochemistry --- Gynaecology. Obstetrics --- Human medicine --- klinische chemie --- medische biochemie --- klinische laboratoria --- genotype --- medische laboratoriumtechnologie --- fenotypen --- medische genetica --- biochemie --- biomedische wetenschappen --- genetica --- cytologie --- vroedkunde --- moleculaire biologie

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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