The Name Game There has been much discussion and some confusion over the issue of the various diagnostic names attached to patients who have deletions of chromosome 22q11. This discussion has appeared on the pages of several medical journals, but more often than not, it is the subject of questions from patients who ... Article
Article  |   October 01, 1998
The Name Game
Author Affiliations & Notes
  • Robert J. Shprintzen
    Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, State University of New York Health Science Center at Syracuse
Article Information
Articles
Article   |   October 01, 1998
The Name Game
SIG 5 Perspectives on Speech Science and Orofacial Disorders, October 1998, Vol. 8, 7-11. doi:10.1044/ssod8.1.7
SIG 5 Perspectives on Speech Science and Orofacial Disorders, October 1998, Vol. 8, 7-11. doi:10.1044/ssod8.1.7
There has been much discussion and some confusion over the issue of the various diagnostic names attached to patients who have deletions of chromosome 22q11. This discussion has appeared on the pages of several medical journals, but more often than not, it is the subject of questions from patients who have been given a diagnosis from one source only to be given another by a different professional. In 1995, I wrote an explanatory article for CHASER News, an excellent publication for parents of children with congenital heart disease (CHASER is an acronym for Congenital Heart Anomalies Support, Education, and Resources, Inc.). My article had been prompted after I had seen several CHASER newsletters with pictures of many children with VCFS who had not been diagnosed previously, or who had been given the label of DiGeorge syndrome. Because the “name game” issue has appeared in print in a number of places, I thought it was about time that it appeared in this newsletter, which is the official publication of the VCFS Educational Foundation.
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