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008			230227s2023 sz | o |||| 0|eng d
020			_a9783031105883
024	7		_a10.1007/978-3-031-10588-3 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aQH431 _b2023 EB
100	1		_aBehrend, Claudia _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut _9690250
245	1	0	_aHuman Chromosome Atlas : _bIntroduction to Diagnostics of Structural Aberrations _cby Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Heinz Schott, Gesa Schwanitz
250			_a2nd ed. 2023
264		1	_aCham _bSpringer International Publishing _c2023
300			_a1 recurso en línea
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_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.
520			_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.
988			_aSpringer_BiomedLife_2023
650		7	_2embne _9139992 _aCromosomas
700	1		_9690251 _aKarimzad Hagh, Javad _eautor
700			_994288 _aMehdipour, Parvin _eautor
700	1		_9690252 _aSchott, Heinz _eautor
700	1		_9690253 _aSchwanitz, Gesa _eautor
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-031-10588-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b05/2024 _dz _eIG _zSI