LEADER 03371nam 2200445 450 001 9910674359403321 005 20230527020259.0 010 $a3-031-10588-5 024 7 $a10.1007/978-3-031-10588-3 035 $a(MiAaPQ)EBC7206810 035 $a(Au-PeEL)EBL7206810 035 $a(CKB)26183501000041 035 $a(DE-He213)978-3-031-10588-3 035 $a(PPN)268208662 035 $a(EXLCZ)9926183501000041 100 $a20230527d2023 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aHuman chromosome atlas $eintroduction to diagnostics of structural aberrations /$fClaudia Behrend [and four others] 205 $aSecond edition. 210 1$aCham, Switzerland :$cSpringer,$d2023. 215 $a1 online resource (385 pages) 311 08$aPrint version: Behrend, Claudia Human Chromosome Atlas Cham : Springer International Publishing AG,c2023 9783031105876 320 $aIncludes bibliographical references. 327 $aIntroduction: Social Attitude towards Disabled People in Different Areas and Cultures -- Role of Ethics Committees -- International Quality Control in the Field of Diagnostics -- Structural Chromosom Abarrations -- Mutations in Non-coding DNA Regions. Single Case Presentations of Intrachromosomal Rearrangements: Inversions -- Deletions -- Duplications -- Ring Chromosomes -- Isochromosomes. Single Case Presentations of Interchromosomal Rearrangements: Translocations -- Insertions -- Complex Chromosome Rearrangements (CCR) -- Marker Chromosomes -- Cases of Intra- and Interchromosomal Mutation in Polymorphic Regions. Guidelines to Clinical Questions and Practical Approaches: Genetic Counselling Procedures -- Life of Persons with Chromosomal Disorders -- Support Groups for Chromosomal Disorders -- Diagnosis and Therapy -- Outlook. 330 $aNow 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. 606 $aHuman chromosomes 615 0$aHuman chromosomes. 676 $a611.01816 700 $aBehrend$b Claudia$0973689 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910674359403321 996 $aHuman Chromosome Atlas$92215777 997 $aUNINA