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008			190424s2019 gw a o |||| 0|eng d
020			_a9783030043452
024	7		_a10.1007/978-3-030-04345-2 _2doi
040			_bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB155 _b2019 EB
100	1		_aZirn, Birgit _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut _9687089
245	1	0	_aGuide for Genetic Consultation _cby Birgit Zirn, Karl Mehnert
264		1	_aCham _bSpringer International Publishing _c2019
300			_a1 recurso en línea (V, 187 páginas) _b97 ilustraciones, 87 ilustraciones a color
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aMedicine (Springer-11650)
505	0		_aPart I Basics: Chromosomes, genes, proteins -- chromosome analysis -- FISH -- Array CGH -- Gene Analysis -- Sequencing: Sanger and NGS -- Part II Cytogenetics: Female Chromosome Set (46, XX) -- Male Chromosome Set (46, XY) -- Germ Cell Formation, Fertilization, Non-Disjunction -- Trisomy 21 (Down syndrome) -- Trisomy 13/18 -- Klinefelter Syndrome -- Turner Syndrome -- Triple X Syndrome -- Triploidy -- Reciprocal Translocation -- Robertson Translocation -- Part III Prenatal Diagnosis: Basis Risk -- Maternal Age Risk -- Chorionic Villus Sampling (CVS) -- Amniocentesis (AC) -- Non-Invasive Prenatal Test (NIPT) -- Chromosome Disorders: Pregnancy And Childbirth -- Part IV Heredities: Autosomal Dominant Inheritance -- Autosomal Recessive Inheritance -- X-Linked Inheritance -- Mitochondrial Inheritance -- Germ Cell Mosaic -- Part V Fertility: Repeated Miscarriages -- Pregnancy: Ovulation To Implantation -- IVF and ICSI -- Polar Body And Pre-Implantation Diagnostics -- Relatives -- Part Vi Cancers: How Does Cancer Develop? -- Colon Cancer -- Breast And Ovarian Cancer -- Part VII Frequent Questions: Developmental Disorder -- Fragile X Syndrome -- Prader-Willi Syndrome 40 Angelman Syndrome -- Noonan Syndrome -- Microdeletion Syndrome 22q11 -- Neuroflbromatose -- Marfan Syndrome 45 Cystic Fibrosis -- Metabolic Disorders -- Myotonic Dystrophy Type 1 -- Huntington's Chorus -- Hemophilia -- Thrombophilia.
520	3		_aSupported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students. .
988			_aSpringer_Medicine_2019
650		7	_2embne _9144879 _aGenética médica
700	1		_aMehnert, Karl _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut _9687090
710	2		_aSpringerLink (Online service) _9106996
776	0	8	_iPrinted edition: _z9783030043445
776	0	8	_iPrinted edition: _z9783030043469
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-04345-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_dz _b02/2023 _eb _zSI