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Article
March 1966

The "D" Syndrome: Report of Four Trisomic and One D/D Translocation Case

Author Affiliations

TORONTO
From the Department of Pathology and the Research Institute, the Hospital for Sick Children, and the University of Toronto, Toronto.

Am J Dis Child. 1966;111(3):236-247. doi:10.1001/archpedi.1966.02090060046002
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

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