Velo-Cardio-Facial Syndrome.

Also known as DiGeorge, 22q11.2 and Shprintzen Syndrome. VCFS is the 2nd most common genetic syndrome occurring in about 1 in very 2000 births. It is caused by a small deletion on Chromosome 22. As implied by its name, the most common characteristics are... MORE

Velo-Cardio-Facial Syndrome.

Also known as DiGeorge, 22q11.2 and Shprintzen Syndrome. VCFS is the 2nd most common genetic syndrome occurring in about 1 in very 2000 births. It is caused by a small deletion on Chromosome 22. As implied by its name, the most common characteristics are hypernasal speech due to palatal (velar) abnormalities, heart(cardiac) abnormalities, characteristic facial features and learning difficulties. Over 180 other abnomalies may also occur.

22q is a "new deletetion"(loss of chromosomal material) that may or may not run in the family. In fact only about 10 percent of the time does a parent have the deletion as well. So, if its not hereditary what cause it? According to geneticits, the root of the disorder lies within a persons genetic make up. You see, most people have 23 pairs of chromosomes(46 total),with one of each pair coming from the mother and father. Numbered one through 22 (the 23rd pair determains the sex of the baby) Chromosomes are divied into two parts called arms. The top part is the "p" arm and the bottom is the "q" arm. People with a 22q deletion have a small part of the "q" arm missing. When the deletion is not present in a parent, it is new mutation(de novo) in the child. It is nothing that the parents did or didn't do to make it happen.
For additional information please visit the following websites:

http://www.vcfsef.org