Abstract PATAU ET AL, in 1960, described an infant with multiple anomalies associated with an additional chromosome in the 13-15 group.1 The anomalies were severe and included anophthalmia, cleft lip and palate, supernumerary digits, a ventricular septal defect, and horseshoe kidney. Cases have since been reported from other medical centers with a very similar pattern of congenital malformations.2-10 Further cases have also been reported by Patau and his co-workers,11,12 who have made a special study of this syndrome, and they have reviewed their cases and other cases from the literature.13 Trisomy of a 13-15 group chromosome and its characteristic pattern of congenital anomalies are now referred to as the "D" syndrome. Patau14 has stressed that chromosomes of the 13-15 group cannot be distinguished from one another. For this reason Therman et al11 suggested this pattern of anomalies be called the D1 syndrome in view References 1. Patau, K., et al: Multiple Congenital Anomaly Caused by an Extra Autosome , Lancet 1:790, 1960.Crossref 2. Atkins, L., and Rosenthal, M.K.: Multiple Congenital Abnormalities Associated With Chromosomal Trisomy , New Eng J Med 265:314, 1961.Crossref 3. Ellis, J.R., and Marwood, J.C.: Autosomal Trisomy Syndromes , Lancet 2:263, 1961.Crossref 4. Ferguson-Smith, M.A.: " Chromosomes and Human Disease ," in Steinberg, A.G.: Progress in Medical Genetics , New York: Grune and Stratton, 1961, p 305. 5. Lubs, H.A., Jr.; Koenig, E.U.; and Brandt, I.K.: Trisomy 13-15: A Clinical Syndrome , Lancet 2:1001, 1961.Crossref 6. Rosenfield, R.L., et al: Trisomy of Chromosomes 13-15 and 17-18: Its Association With Infantile Arteriosclerosis , Amer J Med Sci 244:763, 1962.Crossref 7. Northcutt, R.C.: Multiple Congenital Anomalies in a Negro Infant With 13-15 Trisomy , Southern Med J 55:385, 1962.Crossref 8. Conen, P.E.; Phillips, K.G.; and Mautner, L.S.: Multiple Developmental Anomalies and Trisomy of a 13-15 Group Chromosome ("D" Syndrome) , Canad Med Assoc J 87:709, 1962. 9. Buhler, V.E., et al: Trisomie 13-15 Mit Cebocephalie , Ann Paediat 199:198, 1962. 10. Miller, J.Q., et al: A Specific Congenital Brain Defect (Arrhinencephaly) in 13-15 Trisomy , New Eng J Med 268: 120, 1963.Crossref 11. Therman, E., et al: The D Trisomy Syndrome and XO Gonadal Dysgenesis in Two Sisters , Amer J Hum Genet 13:193, 1961. 12. Patau, K., et al: Two New Cases of Di Trisomy in Man , Hereditas 47:239, 1961.Crossref 13. Smith, D.W., et al: The Di Trisomy Syndrome , J Pediat 62:326, 1963.Crossref 14. Patau, K.: The Identification of Individual Chromosomes, Especially in Man , Amer J Hum Genet 12:250, 1960. 15. Uchida, I.A.; Patau, K.; and Smith, D.W.: Dermal Patterns of 18 and Di Trisomics , Amer J Hum Genet 14: 345, 1962. 16. Huehns, E.R.; Lutzner, M.; and Hecht, F.: Nuclear Abnormalities of the Neutrophils in Di (13-15)-Trisomy Syndrome , Lancet 1:589, 1964.Crossref 17. Marshall, R., et al: Features of 13-15 Trisomy Syndrome With Normal Karyotype , Lancet 1:556, 1964.Crossref 18. DeMeyers, W.; Zeman, W.; and Palmer, C.G.: Familial Alobar Holoprosencephaly (Arrhinencephaly) With Median Cleft Lip and Palate: Report of Patient With 46 Chromosomes , Neurology 13:913, 1963.Crossref 19. Copoletta, J.M., and Wolbach, S.B.: Body Length and Organ Weights of Infants and Children , Amer J Path 9:55, 1933. 20. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613, 1960.Crossref 21. Conen, P.E., and Erkman, B.: Necropsy Spleen Samples for Chromosome Cultures , Lancet 1:665, 1964.Crossref 22. Erkman, B.; Basrur, V.R.; and Conen, P.E.: D/D Translocation "D" Syndrome: Report of 3 Cases , J Pediat 67:270 ( (Aug) ) 1965.Crossref 23. Huehns, E.R., et al: Developmental Hemoglobin Anomalies in a Chromosome Triplication: Di Trisomy Syndrome , Proc Nat Acad Sci USA 51:89, 1964.Crossref 24. Potter, E.L.: Pathology of the Fetus and Infant , ed 2, Chicago: Year Book Medical Pubs, Inc., 1961, p 494. 25. Potter, E.L.: Pathology of the Fetus and the Newborn , ed 1, Chicago: Year Book Medical Pubs, Inc., 1952, p 422. 26. Haworth, J.C.; Medovy, H.; and Lewis, A.J.: Cebocephaly With Endocrine Dysgenesis: Report of 3 Cases , J Pediat 59:726, 1961.Crossref 27. Uchida, I.A., et al: Familial Short Arm Deficiency of Chromosome 18 Concomitant With Arhinencephaly and Alopecia Congenita , Amer J Hum Genet 17:410, 1965. 28. Shone, J.D.; Vizcaino, A.; and Conen, P.E.: Cardiovascular Anomalies in the D and E Syndromes, to be published. 29. Hirschhorn, K.: Personal communication to the author. 30. Miller, J.R.: Personal communication to the author. 31. Jongbloet, P., et al: Sporadic Trisomy D1 With Translocation D/D , Helv Paediat Acta 19:121, 1964. 32. Gerald, P.: Personal communication to the author. 33. Conen, P.E., and Erkman, B.: Frequency and Occurrence of the D and E Syndromes, to be published.
American Journal of Diseases of Children – American Medical Association
Published: Mar 1, 1966