Wichitge Krankheitsbilder at Medizinische Universität Innsbruck

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Study with flashcards and summaries for the course Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

hereditäres diffuses Magenkarzinom

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Cooks Syndrom

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Prothrombin Var. 97G>A

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Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Laktosetoleranz

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Trisomie 21

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Edwards Syndrom

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Pätau Syndrom

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Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Robertson Translokation (balanciert)

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Robertson Translokation (unbalanciert)

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Philadelphia Translokation

Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Cri-du-chat Syndrom

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Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Williams-Beuren-Syndrom

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Exemplary flashcards for Wichitge Krankheitsbilder at the Medizinische Universität Innsbruck on StudySmarter:

Wichitge Krankheitsbilder

hereditäres diffuses Magenkarzinom

Betroffen:

  • CHD1 Gen

Analysemethode:

  • DNA-Array, MLPA


Wichitge Krankheitsbilder

Cooks Syndrom

Betroffen:

  • KCNJ2/SOX9

Analysemethode:

  • DNA-Array

Wichitge Krankheitsbilder

Prothrombin Var. 97G>A

Betroffen:

  • Gene, die Prothrombin regulieren

Analysemethode:

  • Sanger

Wichitge Krankheitsbilder

Laktosetoleranz

Betroffen:

  • LCT > Laktase Gen CS 2

Analysemethode:

  • Sanger

Wichitge Krankheitsbilder

Trisomie 21

Betroffen:

  • CS 21

Analysemethode:

  • Chromosomenanalyse

Wichitge Krankheitsbilder

Edwards Syndrom

Betroffen:

  • CS 18

Analysemethode:

  • Chromosomenanalyse

Wichitge Krankheitsbilder

Pätau Syndrom

Betroffen:

  • CS 13

Analysemethode:

  • Chromosomenanalyse

Wichitge Krankheitsbilder

Robertson Translokation (balanciert)

Betroffen:

  • unterschiedliche CS

Analysemethode:

  • Chromosomenanalyse
  • kein DNA-Array!

Wichitge Krankheitsbilder

Robertson Translokation (unbalanciert)

Betroffen:

  • unterschiedliche CS

Analysemethode:

  • DNA-Array

Wichitge Krankheitsbilder

Philadelphia Translokation

Betroffen:

  • ABL1 Gen CS 9
  • BCR Gen CS 22

Analysemethode:

  • Chromosomenanalyse
  • FISH

Wichitge Krankheitsbilder

Cri-du-chat Syndrom

Betroffen:

  • Deletion 5p

Analysemethode:

  • Chromosomenanalyse

Wichitge Krankheitsbilder

Williams-Beuren-Syndrom

Betroffen:

  • Mikrodeletion 7q
  • 26-28 Gene, darunter Elastin

Analysemethode:

  • DNA-Array

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Universität Mannheim

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Medizinische Hochschule Hannover

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Universität Regensburg

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LMU München

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