Guide for Genetic Consultation

Guide for Genetic Consultation by Birgit Zirn, Karl Mehnert.

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 coun...

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Bibliographic Details
Main Authors: Zirn, Birgit (Author), Mehnert, Karl (Author)
Corporate Author: SpringerLink (Online service)
Format: eBook
Language:English
Published: Cham : Springer International Publishing : Imprint: Springer, 2019.
Edition:1st ed. 2019.
Series:Springer eBook Collection.
Subjects:
Reproductive medicine.
Human genetics.
Obstetrics.
Public health.
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
Table of Contents:
  • 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.

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