Velocardiofacial Syndrome
In addition to a prenatal history, complete medical and family history, and a physical examination, diagnostic procedures for DiGeorge may include:
blood tests and tests to examine for immune system problems
x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
echocardiography - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
fluorescent in situ hybridization (FISH) studies - when features of conotruncal heart defects, clefting, other facial features, hypocalcemia, and absent thymus are identified, a blood test is usually ordered to look for a deletion in the chromosome 22q11.2 region. FISH is specifically designed to look for small groups of genes that are deleted. If the FISH test finds no deletion in the 22q11.2 region and the features of VCFS are still strongly suggestive, then a full chromosome study is usually performed to look for other chromosome defects that have been associated with this syndrome.
If a 22q11.2 deletion is detected in a child, then both parents are offered the FISH test to see if this deletion is inherited. In approximately 10 percent of families, the deletion has been inherited from one of the parents. Any individual who has this 22q11.2 deletion has a 50 percent chance, with each pregnancy, of passing it on to a child.
Velocardiofacial Syndrome
OTHER RELATED INFORMATION
In addition to a prenatal history, complete medical and family history, and a physical examination, diagnostic procedures for DiGeorge may include:
blood tests and tests to examine for immune system problems
x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
echocardiography - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
fluorescent in situ hybridization (FISH) studies - when features of conotruncal heart defects, clefting, other facial features, hypocalcemia, and absent thymus are identified, a blood test is usually ordered to look for a deletion in the chromosome 22q11.2 region. FISH is specifically designed to look for small groups of genes that are deleted. If the FISH test finds no deletion in the 22q11.2 region and the features of VCFS are still strongly suggestive, then a full chromosome study is usually performed to look for other chromosome defects that have been associated with this syndrome.
If a 22q11.2 deletion is detected in a child, then both parents are offered the FISH test to see if this deletion is inherited. In approximately 10 percent of families, the deletion has been inherited from one of the parents. Any individual who has this 22q11.2 deletion has a 50 percent chance, with each pregnancy, of passing it on to a child.
Velocardiofacial Syndrome
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