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Di georges synndromes

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1 Di georges synndromes on Sun Oct 02, 2011 8:26 pm

amy

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Doctor
Doctor
Patients with 22q11 deletion will have significant congenital heart defects.
The range of defects is wide but tetralogy of Fallot and abnormalities in the main arteries are most frequently seen.
About 50% of patients will have defects of the palate.Mal Development of Parathyroid gland leads to Hypocalcemia.Mal development of Thymus leads to severe immunodeficiency with T cell depletion.

2 Re: Di georges synndromes on Mon Oct 03, 2011 9:00 am

avijitprusty

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aka..........velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia

3 Re: Di georges synndromes on Mon Oct 03, 2011 9:14 am

avijitprusty

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Doctor
pnemonic==Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia...................................CATCH

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