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Guide for Genetic Consultation

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Guide for Genetic Consultation/ by Birgit Zirn, Karl Mehnert.
作者:	Zirn, Birgit.
其他作者:	Mehnert, Karl.
面頁冊數:	V, 187 p. 97 illus., 87 illus. in color.online resource. :
Contained By:	Springer Nature eBook
標題:	Reproductive medicine. -
電子資源:	https://doi.org/10.1007/978-3-030-04345-2
ISBN:	9783030043452

Guide for Genetic Consultation
Zirn, Birgit.

Guide for Genetic Consultation[electronic resource] /by Birgit Zirn, Karl Mehnert. - 1st ed. 2019. - V, 187 p. 97 illus., 87 illus. in color.online resource.

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.

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. .

ISBN: 9783030043452

Standard No.: 10.1007/978-3-030-04345-2doiSubjects--Topical Terms:

1253938
Reproductive medicine.

LC Class. No.: RG133.5

Dewey Class. No.: 612.6

Guide for Genetic Consultation
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