Cytogenetic abnormalities : chromosomal, FISH, and microarray-based clinical reporting / Susan Mahler Zneimer.

Format:

Book

Author/Creator:

Zneimer, Susan Mahler, author.

Language:

English

Subjects (All):

Chromosomes.

Chromatin.

Physical Description:

1 online resource (665 p.)

Edition:

1st ed.

Place of Publication:

Chichester, England : Wiley Blackwell, 2014.

Language Note:

English

Summary:

"This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports"--Provided by publisher.

Contents:

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

Notes:

Description based upon print version of record.

Includes bibliographical references and index.

Description based on print version record.

ISBN:

9781118412565

1118412567

9781118412602

1118412605

9781118412572

1118412575

OCLC:

891397972