MULTIPLE CONGENITAL ANOMALIES IN THE E1-TRISOMY (GROUP 16-18) SYNDROME.

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