PEDIATRICS Vol. 56 No. 5 November 1975, pp. 762-767
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Trisomy 8 Mosaicism Syndrome

Robert M. Fineman M.D., Ph.D.1, Ronald C. Ablow M.D.1, Rufus O. Howard M.D.1, James Albright M.D.1, and W. Roy Breg M.D.1

1 Departments of Human Genetics, Pediatrics, Ophthalmology, Radiology, and Orthopedics, Yale University School of Medicine, New Haven, Connecticut, and Southbury Training School, Southbury, Connecticut

Chromosome 8 is the largest autosome thus far found to be trisomic among liveborn infants. Trisomy 8 "mosaicism" syndrome (T8mS) consists primarily of individuals whose chromosome complement is mosaic for chromosome 8 (T8m),i.e. patients with a chromosomally normal cell line in addition to the trisomic 8 cell line, and a few known individuals with full trisomy 8 (T8),i.e. each cell observed contains an extra chromosome 8. Reported cases of both types share a number of common features and thus have helped to delineate a new syndrome. Common features of T8mS include mild-to-moderate mental retardation, strabismus osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hypronephrosis, cryptorchidism, and characteristic dermatoglyphics. Since chromosomal mosaicism is often present in this syndrome it is not surprising that considerable phenotypic variation exists. The present report of one of the youngest individuals yet described with T8m adds two more physical findings (dense corneal clouding and a heretofore undescribed clavicular deformity) to the constellation of abnormalities associated with T8mS. On the basis of the phenotypic and cytogenetic findings in this and 17 similar patients previously reported it is proposed that T8mS is a distinct clinical entity.

Submitted on February 27, 1975
Accepted on April 24, 1975




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