國立虎尾科技大學 |

Guide for genetic consultation

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Guide for genetic consultation/ edited by Birgit Zirn, Karl Mehnert.
other author:	Zirn, Birgit.
Published:	Cham :Springer International Publishing : : 2019.,
Description:	v, 187 p. :ill., digital ; : 21 cm.;
Contained By:	Springer eBooks
Subject:	Medical genetics - Handbooks, manuals, etc. -
Online resource:	https://doi.org/10.1007/978-3-030-04345-2
ISBN:	9783030043452

Guide for genetic consultation
Handbuch fur die Genetische Sprechstunde.English

Guide for genetic consultation[electronic resource] /edited by Birgit Zirn, Karl Mehnert. - Cham :Springer International Publishing :2019. - v, 187 p. :ill., digital ;21 cm.

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:

966353
Medical genetics
--Handbooks, manuals, etc.

LC Class. No.: RB155

Dewey Class. No.: 616.042

Guide for genetic consultation
LDR:02860nam a2200325 a 4500 001 939820
003 DE-He213
005 20190424172433.0
006 m d
007 cr nn 008maaau
008 200414s2019 gw s 0 eng d
020 $a 9783030043452 $q (electronic bk.)
020 $a 9783030043445 $q (paper)
024 7 $a 10.1007/978-3-030-04345-2 $2 doi
035 $a 978-3-030-04345-2
040 $a GP $c GP
041 1 $a eng $h ger
050 4 $a RB155
072 7 $a MFKC $2 bicssc
072 7 $a HEA039060 $2 bisacsh
072 7 $a MFKC $2 thema
082 0 4 $a 616.042 $2 23
090 $a RB155 $b .Z81 2019
130 0 $a Handbuch fur die Genetische Sprechstunde. $l English $3 1226220
245 1 0 $a Guide for genetic consultation $h [electronic resource] / $c edited by Birgit Zirn, Karl Mehnert.
260 $a Cham : $c 2019. $b Springer International Publishing : $b Imprint: Springer,
300 $a v, 187 p. : $b ill., digital ; $c 21 cm.
505 0 $a 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.
520 $a 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.
650 0 $a Medical genetics $v Handbooks, manuals, etc. $3 966353
650 0 $a Medical consultation $v Handbooks, manuals, etc. $3 781018
650 1 4 $a Reproductive Medicine. $3 669081
650 2 4 $a Human Genetics. $3 593893
650 2 4 $a Obstetrics/Perinatology/Midwifery. $3 1200342
650 2 4 $a Public Health. $3 592982
700 1 $a Zirn, Birgit. $3 1226221
700 1 $a Mehnert, Karl. $3 1226222
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer eBooks
856 4 0 $u https://doi.org/10.1007/978-3-030-04345-2
950 $a Medicine (Springer-11650)