| Description |
1 online resource (xx, 220 pages) : illustrations |
| Contents |
Introduction -- Inheritance of small supernumerary marker chromosomes -- Formation of small supernumerary marker chromosomes -- Small supernumerary marker chromosomes in genetic diagnostics and counseling -- Small supernumerary marker chromosomes known to be correlated with specific syndromes -- Centric small supernumerary marker chromosomes -- Neocentric small supernumerary marker chromosomes by chromosome -- Multiple small supernumerary marker chromosomes -- Small supernumerary marker chromosomes additionally to other chromosomal rearrangements -- Complex small supernumerary marker chromosomes -- Small supernumerary marker chromosomes and tumors -- Appendix: Patient organizations in connection with small supernumerary marker chromosomes -- Glossary |
| Summary |
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 |
| Analysis |
Medicine |
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Human genetics |
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Medical laboratories |
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Reproductive Medicine |
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Biomedicine |
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Laboratory Medicine |
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Cytogenetics |
| Bibliography |
Includes bibliographical references and index |
| Subject |
Medical genetics.
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Human cytogenetics.
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Genetic disorders.
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Chromosome abnormalities.
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Chromosome Aberrations
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Chromosome Disorders
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Genetics, Medical
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Genetic Diseases, Inborn
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Chromosome abnormalities
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Genetic disorders
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Human cytogenetics
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Medical genetics
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| Genre/Form |
Case studies.
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Études de cas.
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| Form |
Electronic book
|
| ISBN |
9783642207662 |
|
3642207669 |
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