Symptoms of 22q11.2 deletion syndrome

The symptoms of 22q11.2 deletion syndrome in a nutshell.

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is commonly associated with medical problems including heart defects, immune system dysfunctions, low calcium levels, endocrine abnormalities, a cleft palate, and delayed behavioral and emotional development. The number, combination, and severity of symptoms vary greatly and are often treated by specialists in a variety of fields. DiGeorge syndrome is caused by a small missing piece in chromosome 22.

November is 22q11.2 deletion syndrome awareness month


What is a fish test? 22q fish test

What is a fish test? 22q fish test

What is FISH?

  • How does FISH work?

  • What is FISH used for?

What is FISH?

Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. This may be used for understanding a variety of chromosomal abnormalities and other genetic mutations.

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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


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

Velo-cardio-facial syndrome (VCFS) is a genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome.

Velo-cardio-facial syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands. DiGeorge syndrome describes the same clinical features as Velo-cardio-facial syndrome, but an individual must have immune system deficiencies associated with lack of a thymus gland to be considered to have true DiGeorge syndrome
•In the 1970s, Robert Shprintzen, PhD, a speech pathologist, described a group of patients with similar clinical features including cleft lip and/or palate, conotruncal heart defects, absent or hypoplastic thymus, and some of these patients also had hypocalcemia. Dr. Shprintzen named this group of features Velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.
•In the 1980s, the technology was developed to identify an underlying chromosome defect in these syndromes. It was determined that over 90 percent of all patients with features of DiGeorge, Shprintzen, and Velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11.2. In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names. Many physicians and researchers today use the term 22q11.2 deletion syndrome because it describes the underlying chromosome problem, or Velo-cardio-facial syndrome (VCFS) because it describes the main body systems involved.