The "D" (13-15) trisomy syndrome: an analysis of 7 examples.

The identification of an additional chromosome in group D (13-15) in a child with multiple congenital anomalies was first made in 1960 by Patau, Smith, Therman, Inhorn, and Wagner (the Wisconsin group). The principal anomalies noted in this case were cleft lip and palate, polydactyly, microphthalmia with hypoplasia of the optic nerves, simian palmar creases, retroflexible thumbs, and ventricular septal defect. The publication of further cases with additional anomalies amply demonstrated that a new, specific, and easily recognizable clinical syndrome had been established (Therman, Patau, Smith, and DeMars, 1961; Ellis and Marwood, 1961; Atkins and Rosenthal, 1961; Lubs, Koenig, and Brandt, 1961). Smith, Patau, Therman, Inhorn, and DeMars of the Wisconsin group had by 1963 accumulated 7 personal cases, the largest series so far published. The condition seems to be less common than 'E' or 'G' trisomy syndromes; the authors have been able to find only 33 published examples, almost all in the form of single case reports. Our clinical, necropsy, and cytogenetic findings in the 7 cases in this report have been analysed to illustrate the spectrum of anomalies which can now be accepted as characteristic. The neuropathological studies of 4 of these cases focus attention upon the failure of prosencephalic (forebrain) cleavage and its possible relationship with the defects of midline cranio-facial development underlying the two main facial categories observed.