In this paper are described the clinical, necropsy, and cytogenetic findings in an infant with multiple congenital anomalies associated with autosomal trisomy in group E. Thirty-three previously recorded cases having a similar chromosomal abnormality are reviewed. Because of uncertainty in identifying the trisomic chromosome in group E, we propose that these cases be termed the "E1-trisomy syndrome." The clinical features of this syndrome are sufficiently distinctive to afford tentative diagnosis. Although absolute diagnosis currently rests upon complete cytogenetic analysis, dermatoglyphics and biochemical defects may eventually prove to be of diagnostic value. Despite a normal mean gestational age, these infants are usually premature in weight. All but three cases have been reported in Caucasians and thus far there has been a preponderance of affected females.
Most patients die in infancy from infection or congestive heart failure. The mean age at death has been 102 days. Grossly evident malformations of heart, gastrointestinal tract and kidneys are the most consistently reported abnormalities at necropsy. The infrequent reports of histologic abnormalities include instances of ectopic pancreas and isolated descriptions of dysplastic changes in various organs. A unique microscopic lesion of the pancreas seen in this and one other reported case deserves further study. Two previously unreported gross lesions, thyroglossal duct cysts and gluteal lipoma, were found in this patient.
Occasionally, the E1,-trisomy syndrome may, apparently, be associated with partial trisomy, trisomy-translocations, mosaicism, double trisomies, and in one instance, an apparently normal chromosome pattern. Pathogenesis of the chromosomal disturbance remains unknown, although advanced parental age appears important. The role of infection and radiation reported infrequently in this disorder is not clear.
Further reporting of the E-trisomy syndrome in extensio, is expected to elucidate many of the unsolved features of the chromosomal syndromes, particularly those relating to the causal relationship of chromosomal aberration and pathogenesis.
A child with partial trisomy 4 (q26 – qterminal) resulting from paternally inherited translocation (4:18) associated with multiple congenital anomalies and death