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
CONEN PE, ERKMAN B, METAXOTOU C. The "D" Syndrome: Report of Four Trisomic and One D/D Translocation Case. Am J Dis Child. 1966;111(3):236–247. doi:10.1001/archpedi.1966.02090060046002
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