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Cytogenetic abnormalities : chromosomal, FISH, and microarray-based clinical reporting / / Susan Mahler Zneimer
| Cytogenetic abnormalities : chromosomal, FISH, and microarray-based clinical reporting / / Susan Mahler Zneimer |
| Autore | Zneimer Susan Mahler |
| Pubbl/distr/stampa | Chichester, England : , : Wiley Blackwell, , 2014 |
| Descrizione fisica | 1 online resource (665 p.) |
| Disciplina | 572.87 |
| Soggetto topico |
Chromosomes
Chromatin |
| ISBN |
1-118-41256-7
1-118-41260-5 1-118-41257-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cytogenetic Abnormalities; Copyright; Contents; Preface; Acknowledgments; Introduction; Part 1 Constitutional Analyses; Section 1 Chromosome Analysis; Chapter 1 Components of a standard cytogenetics report, normal results and culture failures; 1.1 Components of a standard cytogenetics report; 1.2 Prenatal normal results; 1.3 Neonatal normal results; 1.4 Normal variants in the population; 1.5 Disclaimers and recommendations; 1.6 Culture failures; 1.7 Contamination; Bibliography; Chapter 2 Mosaicism; 2.1 Normal results with 30-50 cells examined; 2.2 Normal and abnormal cell lines
2.3 Two or more abnormal cell lines Bibliography; Chapter 3 Autosomal trisomies - prenatal and livebirths; 3.1 Introduction; 3.2 Trisomy 21 - Down syndrome; 3.3 Mosaic trisomy 21 - mosaic Down syndrome; 3.4 Trisomy 13 - Patau syndrome; 3.5 Trisomy 18 - Edwards syndrome; 3.6 Trisomy 8 - mosaic; 3.7 Trisomy 9 - mosaic; 3.8 Trisomy 20 - mosaic, prenatal; 3.9 Trisomy 22 - mosaic, prenatal; Bibliography; Chapter 4 Translocations; 4.1 Reciprocal (balanced) translocations; 4.2 Robertsonian translocations; Bibliography; Chapter 5 Inversions and recombinant chromosomes 5.1 Risks of spontaneous abortions and live born abnormal offspring 5.2 Pericentric inversions and their recombinants; 5.3 Paracentric inversions and their recombinants; Bibliography; Chapter 6 Visible deletions, duplications and insertions; 6.1 Definitions; 6.2 Visible duplications; 6.3 Balanced Insertions; Bibliography; Chapter 7 Unidentifiable marker chromosomes, derivative chromosomes, chromosomes with additional material and rings; 7.1 Marker chromosomes; 7.2 Derivative chromosomes; 7.3 Chromosomes with additional material; 7.4 Ring chromosomes; 7.5 Homogenously staining regions Bibliography Chapter 8 Isochromosomes, dicentric chromosomes and pseudodicentric chromosomes; 8.1 Isochromosomes/dicentric chromosomes; 8.2 Pseudodicentric chromosomes; Bibliography; Chapter 9 Composite karyotypes and other complex rearrangements; 9.1 Composite karyotypes; 9.2 Complex rearrangements; Bibliography; Chapter 10 Sex chromosome abnormalities; 10.1 X chromosome aneuploidies - female phenotypes; 10.2 X and Y chromosome aneuploidies - male phenotypes; 10.3 X chromosome structural abnormalities; 10.4 Y chromosome structural abnormalities; 10.5 46,XX males and 46,XY females 10.6 X chromosome translocations Bibliography; Chapter 11 undefined; 11.1 Aneuploid rate; 11.2 Confined placental mosaicism; 11.3 Hydatidiform moles; 11.4 Monosomy X in a fetus; 11.5 Trisomies in a fetus; 11.6 Double trisomy; 11.7 Triploidy; 11.8 Tetraploidy; Bibliography; Chapter 12 Uniparental disomy; 12.1 Uniparental disomy of chromosome 14; 12.2 Uniparental disomy of chromosome 15; 12.3 Uniparental disomy of chromosome 11p15; Bibliography; Section 2 Fluorescence In Situ Hybridization (FISH) Analysis; Chapter 13 Metaphase analysis; 13.1 Introduction; 13.2 Reporting normal results 13.3 Common disclaimers |
| Record Nr. | UNINA-9910132169203321 |
Zneimer Susan Mahler
|
||
| Chichester, England : , : Wiley Blackwell, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Cytogenetic abnormalities : chromosomal, FISH, and microarray-based clinical reporting / / Susan Mahler Zneimer
| Cytogenetic abnormalities : chromosomal, FISH, and microarray-based clinical reporting / / Susan Mahler Zneimer |
| Autore | Zneimer Susan Mahler |
| Pubbl/distr/stampa | Chichester, England : , : Wiley Blackwell, , 2014 |
| Descrizione fisica | 1 online resource (665 p.) |
| Disciplina | 572.87 |
| Soggetto topico |
Chromosomes
Chromatin |
| ISBN |
1-118-41256-7
1-118-41260-5 1-118-41257-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cytogenetic Abnormalities; Copyright; Contents; Preface; Acknowledgments; Introduction; Part 1 Constitutional Analyses; Section 1 Chromosome Analysis; Chapter 1 Components of a standard cytogenetics report, normal results and culture failures; 1.1 Components of a standard cytogenetics report; 1.2 Prenatal normal results; 1.3 Neonatal normal results; 1.4 Normal variants in the population; 1.5 Disclaimers and recommendations; 1.6 Culture failures; 1.7 Contamination; Bibliography; Chapter 2 Mosaicism; 2.1 Normal results with 30-50 cells examined; 2.2 Normal and abnormal cell lines
2.3 Two or more abnormal cell lines Bibliography; Chapter 3 Autosomal trisomies - prenatal and livebirths; 3.1 Introduction; 3.2 Trisomy 21 - Down syndrome; 3.3 Mosaic trisomy 21 - mosaic Down syndrome; 3.4 Trisomy 13 - Patau syndrome; 3.5 Trisomy 18 - Edwards syndrome; 3.6 Trisomy 8 - mosaic; 3.7 Trisomy 9 - mosaic; 3.8 Trisomy 20 - mosaic, prenatal; 3.9 Trisomy 22 - mosaic, prenatal; Bibliography; Chapter 4 Translocations; 4.1 Reciprocal (balanced) translocations; 4.2 Robertsonian translocations; Bibliography; Chapter 5 Inversions and recombinant chromosomes 5.1 Risks of spontaneous abortions and live born abnormal offspring 5.2 Pericentric inversions and their recombinants; 5.3 Paracentric inversions and their recombinants; Bibliography; Chapter 6 Visible deletions, duplications and insertions; 6.1 Definitions; 6.2 Visible duplications; 6.3 Balanced Insertions; Bibliography; Chapter 7 Unidentifiable marker chromosomes, derivative chromosomes, chromosomes with additional material and rings; 7.1 Marker chromosomes; 7.2 Derivative chromosomes; 7.3 Chromosomes with additional material; 7.4 Ring chromosomes; 7.5 Homogenously staining regions Bibliography Chapter 8 Isochromosomes, dicentric chromosomes and pseudodicentric chromosomes; 8.1 Isochromosomes/dicentric chromosomes; 8.2 Pseudodicentric chromosomes; Bibliography; Chapter 9 Composite karyotypes and other complex rearrangements; 9.1 Composite karyotypes; 9.2 Complex rearrangements; Bibliography; Chapter 10 Sex chromosome abnormalities; 10.1 X chromosome aneuploidies - female phenotypes; 10.2 X and Y chromosome aneuploidies - male phenotypes; 10.3 X chromosome structural abnormalities; 10.4 Y chromosome structural abnormalities; 10.5 46,XX males and 46,XY females 10.6 X chromosome translocations Bibliography; Chapter 11 undefined; 11.1 Aneuploid rate; 11.2 Confined placental mosaicism; 11.3 Hydatidiform moles; 11.4 Monosomy X in a fetus; 11.5 Trisomies in a fetus; 11.6 Double trisomy; 11.7 Triploidy; 11.8 Tetraploidy; Bibliography; Chapter 12 Uniparental disomy; 12.1 Uniparental disomy of chromosome 14; 12.2 Uniparental disomy of chromosome 15; 12.3 Uniparental disomy of chromosome 11p15; Bibliography; Section 2 Fluorescence In Situ Hybridization (FISH) Analysis; Chapter 13 Metaphase analysis; 13.1 Introduction; 13.2 Reporting normal results 13.3 Common disclaimers |
| Record Nr. | UNINA-9910814190003321 |
|
Zneimer Susan Mahler
|
||
| Chichester, England : , : Wiley Blackwell, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Cytogenetic laboratory management : chromosomal, FISH, and microarray-based best practices and procedures / / Susan Mahler Zneimer
| Cytogenetic laboratory management : chromosomal, FISH, and microarray-based best practices and procedures / / Susan Mahler Zneimer |
| Autore | Zneimer Susan Mahler |
| Pubbl/distr/stampa | Hoboken, New Jersey : , : John Wiley & Sons Incorporated, , [2017] |
| Descrizione fisica | 1 online resource (845 p.) |
| Disciplina | 572.8 |
| Soggetto topico |
Cytogenetics
In situ hybridization |
| ISBN |
1-119-06977-7
1-119-06976-9 1-119-06978-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Guidelines for good clinical laboratory practice -- Quality management -- Design control of tests and FDA guidelines for laboratory developed tests (LDTs) -- Pre-clinical validation studies -- Reagents, instruments and equipment -- Cost of testing and staffing requirements -- Process improvement : six sigma approach to laboratory improvement -- Staff training and competency for a cytogenetics laboratory -- Training program for cytogenetic and FISH technologists -- Training program for molecular genetic technologists -- General SOP information by test and pre-analytic procedures -- Analytic procedures : chromosome analysis -- Analytic procedures : FISH analysis -- Analytic procedures : microarrays -- Post-analytic procedures. |
| Record Nr. | UNINA-9910135026003321 |
|
Zneimer Susan Mahler
|
||
| Hoboken, New Jersey : , : John Wiley & Sons Incorporated, , [2017] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Cytogenetic laboratory management : chromosomal, FISH, and microarray-based best practices and procedures / / Susan Mahler Zneimer
| Cytogenetic laboratory management : chromosomal, FISH, and microarray-based best practices and procedures / / Susan Mahler Zneimer |
| Autore | Zneimer Susan Mahler |
| Pubbl/distr/stampa | Hoboken, New Jersey : , : John Wiley & Sons Incorporated, , [2017] |
| Descrizione fisica | 1 online resource (845 p.) |
| Disciplina | 572.8 |
| Soggetto topico |
Cytogenetics
In situ hybridization |
| ISBN |
1-119-06977-7
1-119-06976-9 1-119-06978-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Guidelines for good clinical laboratory practice -- Quality management -- Design control of tests and FDA guidelines for laboratory developed tests (LDTs) -- Pre-clinical validation studies -- Reagents, instruments and equipment -- Cost of testing and staffing requirements -- Process improvement : six sigma approach to laboratory improvement -- Staff training and competency for a cytogenetics laboratory -- Training program for cytogenetic and FISH technologists -- Training program for molecular genetic technologists -- General SOP information by test and pre-analytic procedures -- Analytic procedures : chromosome analysis -- Analytic procedures : FISH analysis -- Analytic procedures : microarrays -- Post-analytic procedures. |
| Record Nr. | UNINA-9910821201103321 |
|
Zneimer Susan Mahler
|
||
| Hoboken, New Jersey : , : John Wiley & Sons Incorporated, , [2017] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||