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What
is VCFS?
Velocardiofacial syndrome (VCFS/ 22q11) is a genetic syndrome.
A syndrome means a pattern of features occurring together.
VCFS/deletion 22q11 is the most common microdeletion syndrome. The most common syndrome associated with cleft palates and the second most common syndrome associated with congenital heart disease.
The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardio" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS.
VCFS is associated with over 100 different features as it affects every major organ system in the body.
Some associated features include but are not limited to:
- Palate and throat problems
- Heart defects
- Characteristic facial appearance
- Learning difficulties/developmental delay
- Psychiatric disorders
- Renal abnormalities
- Eye problems
- Hearing problems
- Hypoparathyroidism (low levels of calcium that can result in seizures)
- Immune system deficiency
- Low muscle tone
- Short stature
- Curvature of the spine (scoliosis).
HOW IS THIS DELETION DETECTED?
A diagnosis is usually made by a clinical geneticist based on the clinical presentation of the person and the genetic testing for the deletion. This testing is known as FISH (Fluorescence In Situ Hybridisation).
Scientists developed “DNA markers” which originate from 22q. These markers can be chemically manipulated so that they fluoresce under microscopic illumination, and are called probes. If added to chromosomes from an individual’s cells they will stick to the part of chromosome 22q11 from which they originated.
Someone with VCFS and a deletion will only show one signal (on the undeleted chromosome 22), whereas as unaffected person will have two signals, one from each chromosome 22.
FISH testing is widely available for the clinical and prenatal diagnosis of deletion 22q11.
Is VCFS / Deletion 22q11 Rare?
VCFS is much more common than previously thought.
It is currently estimated that around 1 in 2000 births are affected making it the second most common genetic syndrome (Gothelf & Lombroso, 2001).
Due to the variable expression of VCFS the incidence is probably much higher than previously estimated and thus this rate is constantly being reviewed.
2008
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Contact
Mary Thorley
membership@vcfsfa.org.au
Watch the Quinn Bradlee (VCFS Sufferer) documentary online click here
