PEDIATRICS Vol. 56 No. 5 November 1975, pp. 826-831
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Cassidy, S. B.
Right arrow Articles by Engel, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cassidy, S. B.
Right arrow Articles by Engel, E.

Trisomy 8 Syndrome

Suzanne B. Cassidy M.S.1, Barbara J. McGee B.S.1, Jan Van Eys M.D., Ph.D.1, Walter E. Nance M.D., Ph.D.1, and Eric Engel M.D., Ph.D.1

1 Departments of Medicine and Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee

In 1970 we reported the case of a 2-month-old boy with a C autosomal trisomy and euploid mosaicism, and suggested, by comparison with other cases, that this chromosome imbalance might result in a definite syndrome. It has now been determined by Giemsa banding studies that the trisomy which is present involves a number 8 member, and a follow-up of this case is presented. In addition, a review of all published cases of authenticated trisomy 8 suggests that this specific anomaly leads to a distinct clinical syndrome involving mild psychomotor retardation, bone and joint anomalies, and other visceral defects. The condition is benign in comparison with other autosomal trisomies.