| Description |
1 online resource |
| Contents |
Intro -- Preface -- Acknowledgement -- Contents -- I: Introduction -- 1: Social Attitude Towards Disabled People: Historical and Cultural Aspects -- 1.1 Monstrosities: Consequence of Sin Versus Play of Nature -- 1.2 "Cripples": The Power of Imagination, Crippled Mind, and Show Business -- 1.3 Changing Social Attitude -- 2: The Role of Ethics Committees -- 3: Quality Control in the Field of Diagnostics -- 4: Types of Chromosome Mutations -- 4.1 Intrachromosomal Rearrangements -- 4.1.1 Inversions -- 4.1.1.1 Pericentric Inversions -- 4.1.1.2 Paracentric Inversions -- 4.1.2 Deletions |
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4.1.3 Duplications -- 4.1.4 Ring Chromosomes -- 4.1.5 Isochromosomes -- 4.2 Interchromosomal Rearrangements -- 4.2.1 Translocations -- 4.2.1.1 Reciprocal Translocations -- 4.2.1.2 Robertsonian Translocations or Centric Fusions -- 4.2.2 Insertions -- 4.2.3 Complex Chromosome Rearrangements (CCR) -- 4.2.4 Marker Chromosomes (Chromosome Derivates) -- 5: Heteromorphismes: Mutations in Non-Coding-DNA Regions -- 5.1 Euchromatic Variants -- 5.2 Satellites -- 5.3 Nucleolus Organising Regions (NOR-Region) -- 5.4 Pericentromeric Heterochromatin -- 5.5 Centromere |
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5.6 Heterochromatic Blocks -- II: Single Case Presentations of Intrachromosomal Rearrangements -- 6: Inversions -- 6.1 Pericentric Inversions -- 6.2 Paracentric Inversions -- 6.3 Summary -- 7: Deletions -- 7.1 Deletions -- 7.2 Summary -- 8: Duplications -- 8.1 Duplications -- 8.2 Summary -- 9: Ring Chromosomes -- 9.1 Ring Chromosomes -- 9.2 Summary -- 10: Isochromosomes -- 10.1 Isochromosomes -- 10.2 Summary -- III: Single Case Presentations of Interchromosomal Rearrangements -- 11: Translocations -- 11.1 Reciprocal Translocations -- 11.2 Summary -- 11.3 Robertsonian Translocations |
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11.4 Summary -- 12: Insertions -- 12.1 Insertions -- 12.2 Summary -- 13: Complex Chromosome Rearrangements (CCR) -- 13.1 Complex Chromosome Rearrangements (CCR) -- 13.2 Summary -- 14: Marker Chromosomes -- 14.1 Marker Chromosomes -- 14.2 Summary -- 15: Heteromorphismes: Mutations in Non-Coding-DNA Regions -- 15.1 Euchromatic Variants -- 15.2 Satellites -- 15.3 Nucleolus Organising Regions (NOR-Regions) -- 15.4 Pericentromeric Heterochromatin -- 15.5 Centromeres -- 15.6 Heterochromatic Blocks -- IV: Guidelines -- 16: Genetic Counselling Procedures -- 16.1 Overview -- 16.2 Case Reports |
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16.2.1 Carrier of Unbalanced Translocation 16/21 de Novo -- 16.2.2 Familial Translocation Y/22 -- 16.2.3 Familial Translocation 4/22 -- 16.2.4 Homologeous Translocation 2/2 de Novo -- 16.2.5 Mosaic Translocation Trisomy 21 -- 17: Life Courses -- 17.1 Overview -- 17.2 Case Reports -- 17.2.1 Carrier of Interstitial Deletion 9q de Novo -- 17.2.2 Carrier of Unbalanced Translocation 14/21 -- 17.2.3 Carrier of a Duplication 3q Derived from a Familial Translocation -- 17.2.4 Carrier of an Interstitial Duplication 3q de Novo -- 17.2.5 Carrier of a Terminal Deletion 18q de Novo -- 18: Support Groups |
| Summary |
Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics |
| Bibliography |
Includes bibliographical references |
| Notes |
Description based on online resource; title from digital title page (viewed on March 20, 2023) |
| Subject |
Human chromosomes -- Atlases
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Human chromosomes
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| Genre/Form |
Electronic books
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atlases.
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Scientific atlases
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Atlases.
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Atlas.
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| Form |
Electronic book
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| Author |
Karimzad Hagh, Javad, author.
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Mehdipour, Parvin, author.
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Schott, Heinz, author.
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Schwanitz, Gesa, author.
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| ISBN |
9783031105883 |
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3031105885 |
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