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Zusammenfassung Trisomie 21: Symptome und Ursache

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Trisomie 21: -Symptome -Ursache biologisch erklärt Bestimmung des Kerngeschlechts von Chromosomen

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Numerische Chromosomenaberration
Während der Keimzellenbildung können Fehler auftreten, durch die die Anzahl einzelner
Chromosomen oder des gesamten Chromosomensatzes verändert wird (Genommutation).



Äïê
Arbeitsauftrag: Lies dir im Buch S. 109 -111 den Abschnitt 2.3.1. „autosomale
Genommutation“ durch und ergänze folgenden Abschnitt

Polysemie Trisomie 21
a) _______________________________________numerische Chromosomaberration

Beispiel: Down-Syndrom

• 47 Chromosomen pro Zelle
• Chromosom 21 ist dreimal vorhanden → Trisomie 21

Symptome:
• Augen schräg nach oben
• Charakteristische Lidfalte
• Vierfingerfurche
• Meist geöffneter Mund (zu große Zunge)
• Häufig und schwere Organfehler

Ursache:

Am häufigsten: Fehler bei der Eizellenbildung



2xChr.
Reduktionsteilung Äquations- Nr. 21
teilung




Kein Chr.
Chromosompaar 21 Nr. 21
Nondisfunktion
Nichttrennung (=_______________________)
der homologen Chromosomen

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