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The history of Velo-cardio-facial and DiGeorge syndrome (22q11.2deletionsyndrome)

The history of Velo-cardio-facial and DiGeorge syndrome (22q11.2deletionsyndrome)

The history of Velo-cardio-facial and DiGeorge syndromes, includes the following discoveries:

•In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
◦hypoparathyroidism (under active parathyroid gland), which results in hypocalcemia (low blood calcium levels)
◦hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system
◦conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
◦cleft lip and/or palate

 

Digeorge syndrome.jpg
What is a fish test? 22q fish test

What is a fish test? 22q fish test

What is Velo-cardio-facial syndrome (VCFS)?

What is Velo-cardio-facial syndrome (VCFS)?