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Humangenetische Grundlagen für Gynäkologen: Fachgebundene genetische Beratung im Überblick
9783110279504
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Description
Genetische Beratung
Allgemeine Aspekte Genetischer Beratung
Rechtlicher Rahmen
Gendiagnostikgesetz
Beratung durch FÄ für Humangenetik
Beratung durch Gynäkologen
Leitlinien
Anamnese
Eigenanamese
Familienanamnese
Stammbaumerstellung und -bewertung
Formale Genetik
Genetische Grundlagen genetischer Beratung
monogene Vererbung
- - autosomal rezessive Vererbung
- - autosomal dominante Vererbung
- - X-chromosomale Vererbung
nicht-mendelsche genetische Krankheitsursachen
- - polygene (multifaktorielle) Vererbung
- - mitochondriale Vererbung
- - Epigenetik
- - Mosaike
Genetische Risikobestimmung (2)
Formalgenetische Interpretation auffälliger Familienanamnesen
Risikoberechnung
Darstellung von Risiken
Bedeutung genetischer Faktoren für Erkrankungswahrscheinlichkeiten
Genetische Diagnostik
Präanalytik
Untersuchungsziele
Probengewinnung
Probenaufbewahrung
Probenversand
Chromosomendiagnostik
Untersuchungsmethoden
- - Fruchtwasserzellanalyse
- - Chorionzottenanalyse
- - Fetalblutanalyse
- - Analyse weiterer Gewebe
Ergebnisse
Ergebnisinterpretation
Zuverlässigkeit…
(Was muss der Gynäkologe berücksichtigen)
Molekular-zytogenetische Diagnostik
Untersuchungsmethoden
Untersuchungsproben: Interphasezellen vs. Chromosomen
Ergebnisse
Interpretation
Zuverlässigkeit…
(Was muss der Gynäkologe berücksichtigen)
Molekulare Diagnostik
Untersuchungsmethoden
Ergebnisse
Ergebnisinterpretation
Zuverlässigkeit…
(Was muss der Gynäkologe berücksichtigen)
Allgemeine Aspekte
Uniparentale Disomie
Befundmitteilungen
Plazentare DNA im mütterlichen Blut
Product Details
66045
9783110279504
9783110279504
Data sheet
- Publication date
- 2016
- Issue number
- 1
- Cover
- hard cover
- Pages count
- 325
- Dimensions (mm)
- 170.00 x 240.00
- Weight (g)
- 762
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