Article Text

Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym
  1. *Clinical Genetics, Royal Devon & Exeter Hospital, Barrack Road, Exeter, Devon EX2 5DW, UK
  2. †Honorary Consultant Plastic Surgeon, Frenchay Hospital NHS Trust, Bristol, UK

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Editor—Time may be closing on use of the acronym “CATCH22” for “deletion 22q11 syndrome”,1 but it is likely to be a good while before it has finally run out. Many will prefer to retain their personal preference and “deletion 22q11 syndrome” does not easily roll off the tongue (and it really needs to be stated in full to distinguish it from the separate and emerging “deletion 22q13 syndrome”2 3). Besides this, any consensus accepted by geneticists will take time to filter through to colleagues in other disciplines who, carrying most of the clinical burden for managing the patients' medical problems, may reasonably question the value of so much discussion about a name. Before (if ever) the relatively unambiguous “deletion 22q11 syndrome” achieves universal acclaim, and/or “velocardiofacial syndrome” (VCFS), the history of medical genetics should record that a little known otolaryngologist from Prague, Dr Eva Sedláčková, almost certainly described the syndrome in 1955,4 and subsequently in 1967,5 as a result of good clinical observation on a cohort of patients with congenital shortening of the soft palate. The findings are further referred to in a paper on soft palate innervation.6 The first paper, of course, appeared some 10, …

    View Full Text