Re: Velo Cardio Facial Syndrome

Posted By B Major on November 24, 1998 at 15:23:16:

In Reply to: Re: Velo Cardio Facial Syndrome posted by CCF CARDIO MD - CRC on November 24, 1998 at 13:19:55:






Thank you for your responce.  I did find the information helpful .  The child has wide set eyes and no upper joint on her pinkie fingers.  Other than that they assure me she has no other problems.  Is there a specific test
possibly DNA or chromosome like there is for Downs Syndrome?
I understand this is a missing link of the 22 chromosome sometimes called Catch 22.  The childs sister has been dianosed with it, she is 8.  Should the anomolies be evident from birth or do they show up as the child grows?
Thank you again  Barb Major
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Dear Barbara,
Velocardiofacial syndrome (VCF, also called Shprintzen syndrome) is due to chromosomal deletions involving 22q11.  The deletions are often too small to be detected with routine cytogenic testing and a different test called fluorescent in situ hybridization (FISH) with a DNA probe for the region of choice is used.
Persons with this syndrome are born with Cardiac anomalies, Abnormal facies, Thymic hypoplasia, Cleft palate and Hypocalcemia (CATCH).  These are all present at birth.
I hope you find this information useful.  Information provided in the heart forum is for general purposes only.  Only your physician can provide specific diagnoses and therapies.  Please feel free to write back with additional questions.
If you would like to make an appointment at the Cleveland Clinic Heart Center, please call 1-800-CCF-CARE or inquire online by using the Heart Center website at www.ccf.org/heartcenter.  The Heart Center website contains a directory of the cardiology staff that can be used to select the physician best suited to address your cardiac problem.
Thank you again for responding, also for clearing up CATCH.  If the child is not showing signs of the anomilies now than she will not develope them in the future, such as renial problems, phycotic episodes or even trouble with her heart?  I am not sure if you are the same doctor that replyed to my first question or not but in that message I stated that I was considering adoption of a 6 year old who possibly has VCFS.  I have requested the FISH test be done, but I have decided to adopt her regardless.  Can you please tell me how this test is performed?
Is it done with a blood test or other?  We live in a small town and I need to know if she will need to have it done before she comes here.  Thank you again. B Major