Guide for Genetic Consultation / / by Birgit Zirn, Karl Mehnert

• Autore: Zirn Birgit
• Pubblicazione: Cham : , : Springer International Publishing : , : Imprint : Springer, , 2019
• Edizione: 1st ed. 2019.
• Descrizione fisica: 1 online resource (V, 187 p. 97 illus., 87 illus. in color.)
• Disciplina: 612.6
• Soggetto topico: Reproductive health; Human genetics; Obstetrics; Public health; Reproductive Medicine; Human Genetics; Obstetrics/Perinatology/Midwifery; Public Health
• Persona (resp. second.): MehnertKarl
• Nota di contenuto: Part 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.
• Sommario/riassunto: Supported 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. .
• Titolo autorizzato: Guide for Genetic Consultation
• ISBN: 3-030-04345-2
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910337485903321
• Lo trovi qui: Univ. Federico II