Proceedings of the First Study Day on 4q Deletion Syndrome in Coventry, United Kingdom

ABSTRACT

4q deletions are rare chromosome disorders (RCD), with an estimated incidence of 1:50,000-100,000 that is rising as a result of routine introduction of chromosomal microarray testing. The diagnosis of a 4q deletion, as of any RCD, confers a sense of exclusion, isolation and guilt on families with an affected child. Reliable information available to a lay audience is scant. To address these issues, Unique, the Rare Chromosome Disorder Support Group, hosted the first international meeting on 4q deletions. Families valued the opportunity to meet genetics and medical professionals with an interest in 4q deletions and to exchange information with each other. In this paper, we intend to summarize all the information presented in this study meeting.

Keywords: