LEADER 05434nam 2200673 450 001 9910132169203321 005 20200520144314.0 010 $a1-118-41256-7 010 $a1-118-41260-5 010 $a1-118-41257-5 035 $a(CKB)3710000000218071 035 $a(EBL)1762071 035 $a(SSID)ssj0001288568 035 $a(PQKBManifestationID)11846925 035 $a(PQKBTitleCode)TC0001288568 035 $a(PQKBWorkID)11294668 035 $a(PQKB)11416385 035 $a(OCoLC)891397972 035 $a(MiAaPQ)EBC1762071 035 $a(DLC) 2014019540 035 $a(Au-PeEL)EBL1762071 035 $a(CaPaEBR)ebr10905963 035 $a(CaONFJC)MIL635796 035 $a(OCoLC)887097242 035 $a(PPN)204419824 035 $a(EXLCZ)993710000000218071 100 $a20140819h20142014 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt 182 $cc 183 $acr 200 10$aCytogenetic abnormalities $echromosomal, FISH, and microarray-based clinical reporting /$fSusan Mahler Zneimer 210 1$aChichester, England :$cWiley Blackwell,$d2014. 210 4$dİ2014 215 $a1 online resource (665 p.) 300 $aDescription based upon print version of record. 311 $a1-118-91249-7 320 $aIncludes bibliographical references and index. 327 $aCytogenetic 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 327 $a2.3 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 327 $a5.1 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 327 $aBibliography 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 327 $a10.6 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 327 $a13.3 Common disclaimers 330 $a"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. 606 $aChromosomes 606 $aChromatin 615 0$aChromosomes. 615 0$aChromatin. 676 $a572.87 700 $aZneimer$b Susan Mahler$0959333 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910132169203321 996 $aCytogenetic abnormalities$92173739 997 $aUNINA