Σύνδρομο Di George

Di George Syndrome (22q 11 deletion)

Πρόκειται για μια χρωμοσωμική ανωμαλία. Οι άνθρωποι έχουν 30 με 40.000 διαφορετικά γονίδια καθ ’ένα  εκ των οποίων εκτελεί μια διαφορετική λειτουργία. Τα γονίδια αυτά βρίσκονται σε ζευγάρια σε 23 χρωμοσώματα (ένα ζευγάρι από κάθε γονέα). Κάθε χρωμόσωμα έχει ένα βραχύ (q) και ένα μακρύ (ρ) σκέλος. Στο Di George σύνδρομο  (21q 11 μικροέλλειψη) ένα μικρό κομμάτι του μακρού σκέλους σε ένα από τα δυο ζεύγη του χρωμοσώματος 22 λείπει.

Πώς δημιουργείται η μικροέλλειψη;
Συμβαίνει ως τυχαίο γεγονός στο ωάριο ή στο σπερματοζωάριο πριν γίνει η σύλληψη.

Συχνότητα:
Παρατηρείται σε συχνότητα 1 : 4000 γεννήσεις

Πώς γίνεται η διάγνωση:
Με επεμβατικό έλεγχο (CVS,αμνιοπαρακέντηση ).

Κύρια χαρακτηριστικά:

  • Καρδιοπάθειες σε ποσοστό 75% με ποιο συχνές, την τετραλογία Fallot  και το δεξί αορτικό τόξο .
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  • Λυκόστομα σε συχνότητα 60% με επακόλουθο δυσκολία σίτισης .
  • Χαμηλό ανοσοποιητικό σύστημα και προδιάθεση σε λοιμώξεις .
  • Νεφρολογικά προβλήματα σε ποσοστό 35%.

 

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